A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001243



Internal ID19090460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52527318..52591653hg38UCSC Ensembl
Innerchr2:52754456..52818791hg19UCSC Ensembl
Innerchr2:52607960..52672295hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3864336
hg1964336
hg1864336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3832n100
Supporting Variantsnssv3578746
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001243
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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