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dbVar

Database of genomic structural variation

nsv7093386

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:430,638

Description:GRCh37/hg19 15q11.2(chr15:22833525-23264190)x1 AND not provided

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: 2138 SVs from 102 studies. See in: genome view

Remapped(Score: Good):22,608,906-23,039,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093386	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	22,608,906	23,039,543
nsv7093386	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	22,833,525	23,264,190

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18786362	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002511812.3, VCV001879313.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786362	Remapped	Good	NC_000015.10:g.(?_ 22608906)_(2303954 3_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	22,608,906	23,039,543
nssv18786362	Submitted genomic		NC_000015.9:g.(?_2 2833525)_(23264190 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	22,833,525	23,264,190

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
nssv18786362	GRCh37: NC_000015.9:g.(?_22833525)_(23264190_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV002511812.3, VCV001879313.4	1

No genotype data were submitted for this variant

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