A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966918



Internal ID18602147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:157192257..157197849hg38UCSC Ensembl
Innerchr7:156984951..156990543hg19UCSC Ensembl
Innerchr7:156677712..156683304hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg385593
hg195593
hg185593
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2489397, nssv2489394, nssv2489393, nssv2489396, nssv2489401, nssv2489398, nssv2489400, nssv2489395, nssv2489399, nssv2489392
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBE3C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966918
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer