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dbVar

Database of genomic structural variation

nsv5380758

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:58,142,612

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. 2020, 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: 148879 SVs from 147 studies. See in: genome view

Remapped(Score: Good):32,672,678-90,815,289

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380758	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	32,672,678	90,815,289
nsv5380758	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	32,964,879	91,358,519

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867106	duplication	Multiple	Multiple	COLORECTAL CANCER	Uncertain significance	ClinVar	RCV001325176.2, VCV001024934.3
nssv16867187	duplication	Multiple	Multiple	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001343104.2, VCV001024934.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867106	Remapped	Good	NC_000015.10:g.(?_ 32672678)_(9081528 9_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	32,672,678	90,815,289
nssv16867187	Remapped	Good	NC_000015.10:g.(?_ 32672678)_(9081528 9_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	32,672,678	90,815,289
nssv16867106	Submitted genomic		NC_000015.9:g.(?_3 2964879)_(91358519 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	32,964,879	91,358,519
nssv16867187	Submitted genomic		NC_000015.9:g.(?_3 2964879)_(91358519 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	32,964,879	91,358,519

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
nssv16867106	GRCh37: NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	germline	COLORECTAL CANCER	Uncertain significance	ClinVar	RCV001325176.2, VCV001024934.3
nssv16867187	GRCh37: NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	germline	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001343104.2, VCV001024934.3

No genotype data were submitted for this variant

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