A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963751



Internal ID18598991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:177214885..177221027hg38UCSC Ensembl
Innerchr2:178079613..178085755hg19UCSC Ensembl
Innerchr2:177787859..177794001hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg386143
hg196143
hg186143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2214670, nssv2214677, nssv2214676, nssv2214673, nssv2214669, nssv2214668, nssv2214672, nssv2214675, nssv2214671, nssv2214674
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesHNRNPA3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963751
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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