A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582796



Internal ID18534391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:135518984..135687745hg38UCSC Ensembl
Innerchr2:136276554..136445315hg19UCSC Ensembl
Innerchr2:135993024..136161785hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38168762
hg19168762
hg18168762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000750
Supporting Variants
Samples
Known GenesMIR128-1, R3HDM1, ZRANB3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582796
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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