A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965719



Internal ID18600949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35649812..35654447hg38UCSC Ensembl
Innerchr6:35617589..35622224hg19UCSC Ensembl
Innerchr6:35725567..35730202hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384636
hg194636
hg184636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2406593, nssv2406594, nssv2406591, nssv2406588, nssv2406589, nssv2406586, nssv2406585, nssv2406590, nssv2406592, nssv2406587
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFKBP5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965719
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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