A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968948



Internal ID18604176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74773863..74776797hg38UCSC Ensembl
Innerchr5:74069688..74072622hg19UCSC Ensembl
Innerchr5:74105444..74108378hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382935
hg192935
hg182935
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2364217, nssv2364220, nssv2364213, nssv2364216, nssv2364215, nssv2364211, nssv2364212, nssv2364219, nssv2364218, nssv2364214
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNSA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968948
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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