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dbVar

Database of genomic structural variation

nsv6312718

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,663,670

Description:
See descriptions for individual calls in download files

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: 4800 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):22,042,929-23,706,598

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312718	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	22,042,929	23,706,598
nsv6312718	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	21,900,440	23,564,111

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974963	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001928022.1, VCV001410288.3
nssv18788395	duplication	Multiple	Multiple	CONOTRUNCAL HEART MALFORMATIONS; CTHM; Conotruncal heart malformations; Double outlet right ventricle; Truncus arteriosus	Uncertain significance	ClinVar	RCV003107885.2, VCV001410288.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974963	Remapped	Perfect	NC_000008.11:g.(?_ 22042929)_(2370659 8_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	22,042,929	23,706,598
nssv18788395	Remapped	Perfect	NC_000008.11:g.(?_ 22042929)_(2370659 8_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	22,042,929	23,706,598
nssv17974963	Submitted genomic		NC_000008.10:g.(?_ 21900440)_(2356411 1_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	21,900,440	23,564,111
nssv18788395	Submitted genomic		NC_000008.10:g.(?_ 21900440)_(2356411 1_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	21,900,440	23,564,111

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
nssv17974963	GRCh37: NC_000008.10:g.(?_21900440)_(23564111_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001928022.1, VCV001410288.3
nssv18788395	GRCh37: NC_000008.10:g.(?_21900440)_(23564111_?)dup	duplication	germline	CONOTRUNCAL HEART MALFORMATIONS; CTHM; Conotruncal heart malformations; Double outlet right ventricle; Truncus arteriosus	Uncertain significance	ClinVar	RCV003107885.2, VCV001410288.3

No genotype data were submitted for this variant

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