A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968957



Internal ID18604185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83742923..83751741hg38UCSC Ensembl
Innerchr5:83038742..83047560hg19UCSC Ensembl
Innerchr5:83074498..83083316hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg388819
hg198819
hg188819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2368550, nssv2367512, nssv2367514, nssv2367513, nssv2367510, nssv2367509, nssv2368549, nssv2368551, nssv2367511, nssv2367508
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968957
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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