A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964968



Internal ID18600203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161750625..161751732hg38UCSC Ensembl
Innerchr5:161177631..161178738hg19UCSC Ensembl
Innerchr5:161110209..161111316hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381108
hg191108
hg181108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2385641, nssv2385647, nssv2385644, nssv2385646, nssv2385645, nssv2385642, nssv2385643, nssv2385639, nssv2385648, nssv2385640
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)nsv964968
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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