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dbVar

Database of genomic structural variation

nsv471468

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:34,540

Description:DAB2IP
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 216 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):121,564,168-121,598,707

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471468	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	121,564,168	121,598,707
nsv471468	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	124,326,447	124,360,986
nsv471468	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000009.9	Chr9	121,406,001	121,440,540

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548365	copy number loss	JDW	Sequencing	Read depth	1	198
nssv548366	copy number loss	NA18507	Sequencing	Read depth	2	208

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548365	Remapped	Perfect	NC_000009.12:g.(12 1564168_?)_(?_1215 98707)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	121,564,168	121,598,707
nssv548366	Remapped	Perfect	NC_000009.12:g.(12 1564168_?)_(?_1215 98707)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	121,564,168	121,598,707
nssv548365	Remapped	Perfect	NC_000009.11:g.(12 4326447_?)_(?_1243 60986)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	124,326,447	124,360,986
nssv548366	Remapped	Perfect	NC_000009.11:g.(12 4326447_?)_(?_1243 60986)del	GRCh37.p13	First Pass	NC_000009.11	Chr9	124,326,447	124,360,986
nssv548365	Submitted genomic		NC_000009.9:g.(121 406001_?)_(?_12144 0540)del	NCBI35 (hg17)		NC_000009.9	Chr9	121,406,001	121,440,540
nssv548366	Submitted genomic		NC_000009.9:g.(121 406001_?)_(?_12144 0540)del	NCBI35 (hg17)		NC_000009.9	Chr9	121,406,001	121,440,540

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548365	3	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548366	3	NA18507	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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