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dbVar

Database of genomic structural variation

nsv4681614

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:67,887

Description:
See descriptions for individual calls in download files
Publication(s):ACOG Committee on Genetics et al. 2009, Dome et al. 2003, Gross et al. 2008, No authors et al. 2021, No authors et al. 2021, Sanz et al. 2006

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: 224 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):90,747,393-90,815,279

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	90,747,393	90,815,279
nsv4681614	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	91,290,623	91,358,509

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212424	deletion	Multiple	Multiple	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Pathogenic	ClinVar	RCV001033263.1, VCV000832791.1
nssv16867070	duplication	Multiple	Multiple	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001327574.4, VCV001027034.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212424	Remapped	Perfect	NC_000015.10:g.(?_ 90747393)_(9081527 9_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	90,747,393	90,815,279
nssv16867070	Remapped	Perfect	NC_000015.10:g.(?_ 90747393)_(9081527 9_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	90,747,393	90,815,279
nssv16212424	Submitted genomic		NC_000015.9:g.(?_9 1290623)_(91358509 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	91,290,623	91,358,509
nssv16867070	Submitted genomic		NC_000015.9:g.(?_9 1290623)_(91358509 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	91,290,623	91,358,509

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
nssv16212424	GRCh37: NC_000015.9:g.(?_91290623)_(91358509_?)del	deletion	germline	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Pathogenic	ClinVar	RCV001033263.1, VCV000832791.1
nssv16867070	GRCh37: NC_000015.9:g.(?_91290623)_(91358509_?)dup	duplication	germline	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001327574.4, VCV001027034.5

No genotype data were submitted for this variant

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