A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980738



Internal ID18269252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141213844..141216333hg38UCSC Ensembl
Innerchr5:140593416..140595905hg19UCSC Ensembl
Innerchr5:140573600..140576089hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382490
hg192490
hg182490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2381736, nssv2381735, nssv2381732, nssv2381200, nssv2381203, nssv2381733, nssv2381201, nssv2381734, nssv2381737, nssv2381202
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCDHB13
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980738
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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