A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696281



Internal ID15086247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237810207..237861249hg38UCSC Ensembl
Innerchr2:238718850..238769892hg19UCSC Ensembl
Innerchr2:238383589..238434631hg18UCSC Ensembl
Innerchr2:238500850..238551892hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851043
hg1951043
hg1851043
hg1751043
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516443
Supporting Variants
Samples
Known GenesRAMP1, RBM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696281
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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