A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv964945



Internal ID18253494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140670812..140674005hg38UCSC Ensembl
Innerchr5:140050397..140053590hg19UCSC Ensembl
Innerchr5:140030581..140033774hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383194
hg193194
hg183194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377882, nssv2377885, nssv2377884, nssv2377881, nssv2377879, nssv2377880, nssv2377887, nssv2377886, nssv2377883, nssv2377888
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDND1, HARS, WDR55
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv964945
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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