A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965740



Internal ID18600970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63580119..63581397hg38UCSC Ensembl
Innerchr6:64290024..64291302hg19UCSC Ensembl
Innerchr6:64347983..64349261hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381279
hg191279
hg181279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2415186, nssv2415181, nssv2415183, nssv2415187, nssv2415185, nssv2415188, nssv2415189, nssv2415190, nssv2415184, nssv2415182
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTP4A1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965740
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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