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dbVar

Database of genomic structural variation

nsv7137197

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:22,474

Description:
See descriptions for individual calls in download files
Publication(s):Koda et al. 1998, Koda et al. 2000, Morishita et al. 2000, Teye et al. 2003

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: 289 SVs from 63 studies. See in: genome view

Submitted genomic72,054,504-72,076,977

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
nsv7137197	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	72,054,504	72,076,977
nsv7137197	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	72,088,403	72,110,876

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830934	deletion	Multiple	Multiple	Hypohaptoglobinemia	Pathogenic	ClinVar	RCV000017247.27, VCV000015900.1
nssv18830935	deletion	Multiple	Multiple	ANHAPTOGLOBINEMIA; AHP; Anhaptoglobinemia; See individual phenotypes in OMIM allelic variants	Affects	ClinVar	RCV000017246.25, VCV000015900.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Outer Stop
nssv18830934	Submitted genomic		NC_000016.10:g.(?_ 72054504)_(?_72076 977)del	GRCh38 (hg38)		NC_000016.10	Chr16	72,054,504	72,076,977
nssv18830935	Submitted genomic		NC_000016.10:g.(?_ 72054504)_(?_72076 977)del	GRCh38 (hg38)		NC_000016.10	Chr16	72,054,504	72,076,977
nssv18830934	Remapped	Perfect	NC_000016.9:g.(?_7 2088403)_(?_721108 76)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	72,088,403	72,110,876
nssv18830935	Remapped	Perfect	NC_000016.9:g.(?_7 2088403)_(?_721108 76)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	72,088,403	72,110,876

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830934	GRCh38: NC_000016.10:g.(?_72054504)_(?_72076977)del	deletion	germline	Hypohaptoglobinemia	Pathogenic	ClinVar	RCV000017247.27, VCV000015900.1
nssv18830935	GRCh38: NC_000016.10:g.(?_72054504)_(?_72076977)del	deletion	germline	ANHAPTOGLOBINEMIA; AHP; Anhaptoglobinemia; See individual phenotypes in OMIM allelic variants	Affects	ClinVar	RCV000017246.25, VCV000015900.1

No genotype data were submitted for this variant

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