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dbVar

Database of genomic structural variation

nsv3922914

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:7,510,965

Description:NCBI36/hg18 15q26.2-26.3(chr15:92859792-100323985)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: 24311 SVs from 127 studies. See in: genome view

Remapped(Score: Good):94,470,225-101,981,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3922914	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	94,470,225	94,470,225	101,981,189	101,981,189
nsv3922914	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	95,013,454	95,013,454	102,521,392	102,521,392
nsv3922914	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000015.8	Chr15	92,814,458	92,859,792	100,323,985	100,338,915

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128195	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452906.2, VCV000399714.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128195	Remapped	Good	NC_000015.10:g.(94 470225_94470225)_( 101981189_10198118 9)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	94,470,225	94,470,225	101,981,189	101,981,189
nssv15128195	Remapped	Good	NC_000015.9:g.(950 13454_95013454)_(1 02521392_102521392 )del	GRCh37.p13	First Pass	NC_000015.9	Chr15	95,013,454	95,013,454	102,521,392	102,521,392
nssv15128195	Submitted genomic		NC_000015.8:g.(928 14458_92859792)_(1 00323985_100338915 )del	NCBI36 (hg18)		NC_000015.8	Chr15	92,814,458	92,859,792	100,323,985	100,338,915

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
nssv15128195	NCBI36: NC_000015.8:g.(92814458_92859792)_(100323985_100338915)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000452906.2, VCV000399714.2	1

No genotype data were submitted for this variant

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