A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968990



Internal ID18257532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138506008..138508348hg38UCSC Ensembl
Innerchr5:137841697..137844037hg19UCSC Ensembl
Innerchr5:137869596..137871936hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg382341
hg192341
hg182341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2377720, nssv2377723, nssv2377721, nssv2377715, nssv2377716, nssv2377722, nssv2377719, nssv2377718, nssv2377724, nssv2377717
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesETF1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968990
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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