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dbVar

Database of genomic structural variation

nsv3916580

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,255,877

Description:
See descriptions for individual calls in download files

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: 5205 SVs from 113 studies. See in: genome view

Remapped(Score: Pass):88,998,274-90,254,150

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
nsv3916580	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	88,998,274	88,998,274	90,254,150	90,254,150
nsv3916580	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	89,297,771	89,297,771	90,293,011	90,293,011
nsv3916580	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	89,078,886	89,093,587	89,888,845	89,930,316

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125161	copy number loss	Multiple	Multiple	See cases	Benign	ClinVar	RCV000449967.2, VCV000400616.2	1
nssv15126855	copy number gain	Multiple	Multiple	See cases	Benign	ClinVar	RCV000451550.2, VCV000400615.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125161	Remapped	Pass	NC_000002.12:g.(88 998274_88998274)_( 90254150_90254150) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	88,998,274	88,998,274	90,254,150	90,254,150
nssv15126855	Remapped	Pass	NC_000002.12:g.(88 998274_88998274)_( 90254150_90254150) dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	88,998,274	88,998,274	90,254,150	90,254,150
nssv15125161	Remapped	Pass	NC_000002.11:g.(89 297771_89297771)_( 90293011_90293011) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	89,297,771	89,297,771	90,293,011	90,293,011
nssv15126855	Remapped	Pass	NC_000002.11:g.(89 297771_89297771)_( 90293011_90293011) dup	GRCh37.p13	First Pass	NC_000002.11	Chr2	89,297,771	89,297,771	90,293,011	90,293,011
nssv15125161	Submitted genomic		NC_000002.10:g.(89 078886_89093587)_( 89888845_89930316) del	NCBI36 (hg18)		NC_000002.10	Chr2	89,078,886	89,093,587	89,888,845	89,930,316
nssv15126855	Submitted genomic		NC_000002.10:g.(89 078886_89093587)_( 89888845_89930316) dup	NCBI36 (hg18)		NC_000002.10	Chr2	89,078,886	89,093,587	89,888,845	89,930,316

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
nssv15125161	NCBI36: NC_000002.10:g.(89078886_89093587)_(89888845_89930316)del	copy number loss	not provided	See cases	Benign	ClinVar	RCV000449967.2, VCV000400616.2	1
nssv15126855	NCBI36: NC_000002.10:g.(89078886_89093587)_(89888845_89930316)dup	copy number gain	not provided	See cases	Benign	ClinVar	RCV000451550.2, VCV000400615.2	3

No genotype data were submitted for this variant

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