A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979002



Internal ID18614205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47796183..47797902hg38UCSC Ensembl
Innerchr2:48023322..48025041hg19UCSC Ensembl
Innerchr2:47876826..47878545hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381720
hg191720
hg181720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2172260, nssv2172265, nssv2171466, nssv2171464, nssv2171467, nssv2171465, nssv2172263, nssv2172262, nssv2172261, nssv2172264
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMSH6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979002
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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