A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978455



Internal ID18613660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64834166..64907727hg38UCSC Ensembl
Innerchr17:62830284..62903845hg19UCSC Ensembl
Innerchr17:60260746..60334307hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3873562
hg1973562
hg1873562
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2107684, nssv2107685, nssv2107682, nssv2107681, nssv2107683, nssv2107679, nssv2107677, nssv2107676, nssv2107678, nssv2107680
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37A3, PLEKHM1P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978455
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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