A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684695



Internal ID15074661
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 gain
Copy Number
Allele State
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)nssv684695
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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