A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977234



Internal ID18265754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:45338677..45341691hg38UCSC Ensembl
Innerchr13:45912812..45915826hg19UCSC Ensembl
Innerchr13:44810812..44813826hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg383015
hg193015
hg183015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1962735, nssv1962742, nssv1962738, nssv1962740, nssv1962744, nssv1962743, nssv1962741, nssv1962737, nssv1962736, nssv1962739
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTPT1, TPT1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977234
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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