A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977272



Internal ID18612478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100150536..100151228hg38UCSC Ensembl
Innerchr13:100802790..100803482hg19UCSC Ensembl
Innerchr13:99600791..99601483hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1972884, nssv1972882, nssv1972883, nssv1972877, nssv1972886, nssv1972881, nssv1972880, nssv1972878, nssv1972879, nssv1972885
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCCA
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977272
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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