A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582956



Internal ID18881237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148456521..148615492hg38UCSC Ensembl
Innerchr2:149214090..149373061hg19UCSC Ensembl
Innerchr2:148930560..149089531hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38158972
hg19158972
hg18158972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1004663
Supporting Variants
Samples
Known GenesMBD5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582956
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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