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dbVar

Database of genomic structural variation

nsv3924832

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:12,797,114

Description:NCBI36/hg18 18p11.32-11.21(chr18:4275-12784384)x1 AND See cases

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: 40222 SVs from 131 studies. See in: genome view

Remapped(Score: Perfect):14,275-12,811,388

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3924832	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	14,275	12,811,388	12,811,388
nsv3924832	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	14,275	12,794,384	12,811,387
nsv3924832	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000018.8	Chr18	4,275	12,784,384	12,801,387

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15130561	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453499.2, VCV000401939.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15130561	Remapped	Perfect	NC_000018.10:g.(?_ 14275)_(12811388_1 2811388)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	14,275	12,811,388	12,811,388
nssv15130561	Remapped	Perfect	NC_000018.9:g.(?_1 4275)_(12794384_12 811387)del	GRCh37.p13	First Pass	NC_000018.9	Chr18	14,275	12,794,384	12,811,387
nssv15130561	Submitted genomic		NC_000018.8:g.(?_4 275)_(12784384_128 01387)del	NCBI36 (hg18)		NC_000018.8	Chr18	4,275	12,784,384	12,801,387

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	Copy number
nssv15130561	NCBI36: NC_000018.8:g.(?_4275)_(12784384_12801387)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453499.2, VCV000401939.2	1

No genotype data were submitted for this variant

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