A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963232



Internal ID18251787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54021871..54033917hg38UCSC Ensembl
Innerchr2:54249008..54261054hg19UCSC Ensembl
Innerchr2:54102512..54114558hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3812047
hg1912047
hg1812047
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2171176, nssv2171167, nssv2171172, nssv2171171, nssv2171175, nssv2171173, nssv2171174, nssv2171170, nssv2171169, nssv2171168
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963232
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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