A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977273



Internal ID18612479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100469380..100471840hg38UCSC Ensembl
Innerchr13:101121634..101124094hg19UCSC Ensembl
Innerchr13:99919635..99922095hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382461
hg192461
hg182461
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1972983, nssv1972982, nssv1972979, nssv1972974, nssv1972980, nssv1972975, nssv1972976, nssv1972978, nssv1972977, nssv1972981
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCCA, PCCA-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977273
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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