A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015003



Internal ID18757538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:147988165..148082084hg38UCSC Ensembl
Innerchr2:148745734..148839653hg19UCSC Ensembl
Innerchr2:148462204..148556123hg18UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3893920
hg1993920
hg1893920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582948
Samples
Known GenesMBD5, ORC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015003
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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