A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977235



Internal ID18612441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45376513..45389022hg38UCSC Ensembl
Innerchr13:45950648..45963157hg19UCSC Ensembl
Innerchr13:44848648..44861157hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg3812510
hg1912510
hg1812510
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962318, nssv1962319, nssv1962320, nssv1962314, nssv1962321, nssv1962322, nssv1962316, nssv1962317, nssv1962315, nssv1962313
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPT1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977235
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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