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dbVar

Database of genomic structural variation

nsv3914825

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:1,023,506

Description:NCBI36/hg18 9q34.11(chr9:129897671-130870711)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: 3888 SVs from 90 studies. See in: genome view

Remapped(Score: Perfect):128,071,397-129,094,902

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
nsv3914825	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	128,071,397	128,095,571	129,068,611	129,094,902
nsv3914825	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	130,833,676	130,857,850	131,830,890	131,857,181
nsv3914825	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	129,873,497	129,897,671	130,870,711	130,897,002

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129683	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000453204.2, VCV000399523.2	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
nssv15129683	Remapped	Perfect	NC_000009.12:g.(12 8071397_128095571) _(129068611_129094 902)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	128,071,397	128,095,571	129,068,611	129,094,902
nssv15129683	Remapped	Perfect	NC_000009.11:g.(13 0833676_130857850) _(131830890_131857 181)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	130,833,676	130,857,850	131,830,890	131,857,181
nssv15129683	Submitted genomic		NC_000009.10:g.(12 9873497_129897671) _(130870711_130897 002)del	NCBI36 (hg18)		NC_000009.10	Chr9	129,873,497	129,897,671	130,870,711	130,897,002

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
nssv15129683	NCBI36: NC_000009.10:g.(129873497_129897671)_(130870711_130897002)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000453204.2, VCV000399523.2	1

No genotype data were submitted for this variant

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