A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977744



Internal ID18612950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82403149..82533242hg38UCSC Ensembl
Innerchr15:82695355..82817650hg19UCSC Ensembl
Innerchr15:80482410..80604705hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38130094
hg19122296
hg18122296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2034932, nssv2034933, nssv2034935, nssv2034928, nssv2034927, nssv2034936, nssv2034929, nssv2034930, nssv2034931, nssv2034934
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCSPG4P8, GOLGA6L20, GOLGA6L9, LOC440300, LOC80154, UBE2Q2P2, UBE2Q2P3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977744
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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