A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976136



Internal ID18611343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:77663595..77665084hg38UCSC Ensembl
Innerchr13:78237730..78239219hg19UCSC Ensembl
Innerchr13:77135731..77137220hg18UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1969519, nssv1969521, nssv1969522, nssv2621997, nssv2621991, nssv1969526, nssv2621989, nssv1969523, nssv2621993, nssv1969520, nssv1969524, nssv2621994, nssv2621992, nssv2621996, nssv2621990, nssv1969525, nssv1969527, nssv1969518, nssv2621988, nssv2621995
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976136
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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