A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005795



Internal ID19095012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:12772..71597hg38UCSC Ensembl
Innerchr2:12772..71597hg19UCSC Ensembl
Innerchr2:2772..61597hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3858826
hg1958826
hg1858826
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3691n100
Supporting Variantsnssv3570475, nssv3570477, nssv3570476
Samples
Known GenesFAM110C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005795
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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