A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964830



Internal ID18600066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32220573..32224306hg38UCSC Ensembl
Innerchr5:32220679..32224412hg19UCSC Ensembl
Innerchr5:32256436..32260169hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383734
hg193734
hg183734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2351610, nssv2351612, nssv2351608, nssv2351615, nssv2351614, nssv2351613, nssv2351611, nssv2351617, nssv2351616, nssv2351609
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)nsv964830
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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