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dbVar

Database of genomic structural variation

nsv4578637

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:5,522,764

Description:GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 AND Chromosome 15q26-qter deletion syndrome

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: 19431 SVs from 126 studies. See in: genome view

Remapped(Score: Good):96,334,870-101,857,633

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4578637	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	96,334,870	101,857,633
nsv4578637	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	96,878,099	102,397,836

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091831	copy number loss	Multiple	Multiple	CHROMOSOME 15q26-qter DELETION SYNDROME; Chromosome 15q26-qter deletion syndrome	Pathogenic	ClinVar	RCV000993689.1, VCV000805881.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16091831	Remapped	Good	NC_000015.10:g.963 34870_101857633del	GRCh38.p12	First Pass	NC_000015.10	Chr15	96,334,870	101,857,633
nssv16091831	Submitted genomic		NC_000015.9:g.9687 8099_102397836del	GRCh37 (hg19)		NC_000015.9	Chr15	96,878,099	102,397,836

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
nssv16091831	GRCh37: NC_000015.9:g.96878099_102397836del	copy number loss	de novo	CHROMOSOME 15q26-qter DELETION SYNDROME; Chromosome 15q26-qter deletion syndrome	Pathogenic	ClinVar	RCV000993689.1, VCV000805881.1	1

No genotype data were submitted for this variant

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