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dbVar

Database of genomic structural variation

nsv3909918

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:1,660,910

Description:NCBI36/hg18 9q34.11(chr9:129952370-131579844)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: 6683 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):128,131,405-129,792,314

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
nsv3909918	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	128,131,405	128,150,270	129,777,744	129,792,314
nsv3909918	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	130,893,684	130,912,549	132,540,023	132,554,593
nsv3909918	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000009.10	Chr9	129,933,505	129,952,370	131,579,844	131,594,414

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126493	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451183.2, VCV000399544.2	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
nssv15126493	Remapped	Perfect	NC_000009.12:g.(12 8131405_128150270) _(129777744_129792 314)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	128,131,405	128,150,270	129,777,744	129,792,314
nssv15126493	Remapped	Perfect	NC_000009.11:g.(13 0893684_130912549) _(132540023_132554 593)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	130,893,684	130,912,549	132,540,023	132,554,593
nssv15126493	Submitted genomic		NC_000009.10:g.(12 9933505_129952370) _(131579844_131594 414)del	NCBI36 (hg18)		NC_000009.10	Chr9	129,933,505	129,952,370	131,579,844	131,594,414

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
nssv15126493	NCBI36: NC_000009.10:g.(129933505_129952370)_(131579844_131594414)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451183.2, VCV000399544.2	1

No genotype data were submitted for this variant

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