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dbVar

Database of genomic structural variation

nsv5564252

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:5
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,221,607

Description:
See descriptions for individual calls in download files
Publication(s):Burgunder et al. 2010, Kurth et al. 2010, Stokman et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2954 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):165,090,150-166,311,756

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564252	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nsv5564252	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	165,946,660	167,168,266

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059301	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001362895.3, VCV001054402.9
nssv17173230	deletion	Multiple	Multiple	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001390921.2, VCV001054402.9
nssv17173291	deletion	Multiple	Multiple	Benign familial infantile epilepsy; Benign familial neonatal-infantile seizures; Benign familial neonatal-infantile seizures; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 11; SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3	Pathogenic	ClinVar	RCV001381177.2, VCV001054402.9
nssv17173303	deletion	Multiple	Multiple	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7; Generalized epilepsy with febrile seizures plus, type 7; Generalized epilepsy with febrile seizures-plus; Hereditary Sensory and Autonomic Neuropathy Type II; Hereditary sensory and autonomic neuropathy type 2; Hereditary sensory and autonomic neuropathy type IIA; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001387893.2, VCV001054402.9
nssv17974162	deletion	Multiple	Multiple	Jeune thoracic dystrophy; Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis; Short-rib thoracic dysplasia	Pathogenic	ClinVar	RCV001871956.4, VCV001054402.9

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059301	Remapped	Perfect	NC_000002.12:g.(?_ 165090150)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nssv17173230	Remapped	Perfect	NC_000002.12:g.(?_ 165090150)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nssv17173291	Remapped	Perfect	NC_000002.12:g.(?_ 165090150)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nssv17173303	Remapped	Perfect	NC_000002.12:g.(?_ 165090150)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nssv17974162	Remapped	Perfect	NC_000002.12:g.(?_ 165090150)_(166311 756_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	165,090,150	166,311,756
nssv17059301	Submitted genomic		NC_000002.11:g.(?_ 165946660)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	165,946,660	167,168,266
nssv17173230	Submitted genomic		NC_000002.11:g.(?_ 165946660)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	165,946,660	167,168,266
nssv17173291	Submitted genomic		NC_000002.11:g.(?_ 165946660)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	165,946,660	167,168,266
nssv17173303	Submitted genomic		NC_000002.11:g.(?_ 165946660)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	165,946,660	167,168,266
nssv17974162	Submitted genomic		NC_000002.11:g.(?_ 165946660)_(167168 266_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	165,946,660	167,168,266

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059301	GRCh37: NC_000002.11:g.(?_165946660)_(167168266_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001362895.3, VCV001054402.9
nssv17173230	GRCh37: NC_000002.11:g.(?_165946660)_(167168266_?)del	deletion	germline	Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy with suppression bursts; Epileptic encephalopathy, early infantile	Pathogenic	ClinVar	RCV001390921.2, VCV001054402.9
nssv17173291	GRCh37: NC_000002.11:g.(?_165946660)_(167168266_?)del	deletion	germline	Benign familial infantile epilepsy; Benign familial neonatal-infantile seizures; Benign familial neonatal-infantile seizures; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11; Early infantile epileptic encephalopathy; Early infantile epileptic encephalopathy 11; SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3	Pathogenic	ClinVar	RCV001381177.2, VCV001054402.9
nssv17173303	GRCh37: NC_000002.11:g.(?_165946660)_(167168266_?)del	deletion	germline	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7; GEFSP7; Generalized epilepsy with febrile seizures plus, type 7; Generalized epilepsy with febrile seizures-plus; Hereditary Sensory and Autonomic Neuropathy Type II; Hereditary sensory and autonomic neuropathy type 2; Hereditary sensory and autonomic neuropathy type IIA; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA; HSAN2A; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001387893.2, VCV001054402.9
nssv17974162	GRCh37: NC_000002.11:g.(?_165946660)_(167168266_?)del	deletion	germline	Jeune thoracic dystrophy; Nephronophthisis; Nephronophthisis; Nephronophthisis; Nephronophthisis; Short-rib thoracic dysplasia	Pathogenic	ClinVar	RCV001871956.4, VCV001054402.9

No genotype data were submitted for this variant

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