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dbVar

Database of genomic structural variation

nsv6311925

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:2,152,905

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: 5654 SVs from 107 studies. See in: genome view

Remapped(Score: Perfect):47,790,907-49,943,811

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311925	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	47,790,907	49,943,811
nsv6311925	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	48,018,046	50,170,949

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974429	duplication	Multiple	Multiple	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV001893873.3, VCV001399732.3
nssv17974430	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001893874.1, VCV001399732.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974429	Remapped	Perfect	NC_000002.12:g.(?_ 47790907)_(4994381 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,790,907	49,943,811
nssv17974430	Remapped	Perfect	NC_000002.12:g.(?_ 47790907)_(4994381 1_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	47,790,907	49,943,811
nssv17974429	Submitted genomic		NC_000002.11:g.(?_ 48018046)_(5017094 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	48,018,046	50,170,949
nssv17974430	Submitted genomic		NC_000002.11:g.(?_ 48018046)_(5017094 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	48,018,046	50,170,949

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
nssv17974429	GRCh37: NC_000002.11:g.(?_48018046)_(50170949_?)dup	duplication	germline	PITT-HOPKINS-LIKE SYNDROME 2; PTHSL2; Pitt Hopkins like syndrome; Pitt-Hopkins-like syndrome 2	Uncertain significance	ClinVar	RCV001893873.3, VCV001399732.3
nssv17974430	GRCh37: NC_000002.11:g.(?_48018046)_(50170949_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001893874.1, VCV001399732.3

No genotype data were submitted for this variant

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