A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963656



Internal ID18598896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:91859320..91975654hg38UCSC Ensembl
Innerchr2:92047346..92163680hg19UCSC Ensembl
Innerchr2:91411073..91527407hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38116335
hg19116335
hg18116335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2185912, nssv2185910, nssv2185908, nssv2185903, nssv2185906, nssv2185911, nssv2185909, nssv2185907, nssv2185905, nssv2185904
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTR3BP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963656
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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