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dbVar

Database of genomic structural variation

nsv5380768

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:221,445

Description:NC_000015.9:g.(?_91290623)_(91512067_?)dup AND Bloom syndrome
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: 811 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):90,747,393-90,968,837

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380768	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	90,747,393	90,968,837
nsv5380768	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	91,290,623	91,512,067

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867069	duplication	Multiple	Multiple	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001327573.2, VCV001027033.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867069	Remapped	Perfect	NC_000015.10:g.(?_ 90747393)_(9096883 7_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	90,747,393	90,968,837
nssv16867069	Submitted genomic		NC_000015.9:g.(?_9 1290623)_(91512067 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	91,290,623	91,512,067

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
nssv16867069	GRCh37: NC_000015.9:g.(?_91290623)_(91512067_?)dup	duplication	germline	BLOOM SYNDROME; BLM; Bloom Syndrome; Bloom syndrome; Bloom syndrome	Uncertain significance	ClinVar	RCV001327573.2, VCV001027033.2

No genotype data were submitted for this variant

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