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dbVar

Database of genomic structural variation

nsv3884269

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:14,929

Description:
See descriptions for individual calls in download files
Publication(s):Gaedigk et al. 1991, Goetz et al. 2018, Gough et al. 1990, Idle et al. 2000, Lyon et al. 2012, Nelson et al. 2004, Steen et al. 1995, Swen et al. 2011

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: 199 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):45,535-60,463

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
nsv3884269	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_3	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	45,535	48,309	57,692	60,463
nsv3884269	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,519,196	42,521,970	42,531,353	42,534,124

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15119735	deletion	Multiple	Multiple	Debrisoquine, poor metabolism of	drug response	ClinVar	RCV000018386.24, VCV000016890.2
nssv16215093	deletion	Multiple	Multiple	Tamoxifen response	drug response	ClinVar	RCV001093715.1, VCV000016890.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15119735	Remapped	Perfect	NT_187682.1:g.(455 35_48309)_(57692_6 0463)del	GRCh38.p12	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	45,535	48,309	57,692	60,463
nssv16215093	Remapped	Perfect	NT_187682.1:g.(455 35_48309)_(57692_6 0463)del	GRCh38.p12	First Pass	NT_187682.1	Chr22\|NT_1 87682.1	45,535	48,309	57,692	60,463
nssv15119735	Submitted genomic		NC_000022.10:g.(42 519196_42521970)_( 42531353_42534124) del	GRCh37 (hg19)		NC_000022.10	Chr22	42,519,196	42,521,970	42,531,353	42,534,124
nssv16215093	Submitted genomic		NC_000022.10:g.(42 519196_42521970)_( 42531353_42534124) del	GRCh37 (hg19)		NC_000022.10	Chr22	42,519,196	42,521,970	42,531,353	42,534,124

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
nssv15119735	GRCh37: NC_000022.10:g.(42519196_42521970)_(42531353_42534124)del	deletion	germline	Debrisoquine, poor metabolism of	drug response	ClinVar	RCV000018386.24, VCV000016890.2
nssv16215093	GRCh37: NC_000022.10:g.(42519196_42521970)_(42531353_42534124)del	deletion	germline	Tamoxifen response	drug response	ClinVar	RCV001093715.1, VCV000016890.2

No genotype data were submitted for this variant

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