A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980649



Internal ID18615849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61389795..61392210hg38UCSC Ensembl
Innerchr5:60685622..60688037hg19UCSC Ensembl
Innerchr5:60721379..60723794hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2357739, nssv2357738, nssv2357734, nssv2357737, nssv2357731, nssv2357736, nssv2357735, nssv2357730, nssv2357732, nssv2357733
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZSWIM6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980649
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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