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dbVar

Database of genomic structural variation

nsv4436721

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:154,797

Description:GRCh37/hg19 18q21.32(chr18:57940764-58095560)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: 439 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):60,273,531-60,428,327

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4436721	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	60,273,531	60,428,327
nsv4436721	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	57,940,764	58,095,560

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15755703	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000790578.1, VCV000638110.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15755703	Remapped	Perfect	NC_000018.10:g.(?_ 60273531)_(6042832 7_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	60,273,531	60,428,327
nssv15755703	Submitted genomic		NC_000018.9:g.(?_5 7940764)_(58095560 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	57,940,764	58,095,560

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
nssv15755703	GRCh37: NC_000018.9:g.(?_57940764)_(58095560_?)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV000790578.1, VCV000638110.1	1

No genotype data were submitted for this variant

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