A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965761



Internal ID18600991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:122641352..122644868hg38UCSC Ensembl
Innerchr6:122962497..122966013hg19UCSC Ensembl
Innerchr6:123004196..123007712hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg383517
hg193517
hg183517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2421705, nssv2421706, nssv2421708, nssv2421714, nssv2421707, nssv2421709, nssv2421713, nssv2421711, nssv2421710, nssv2421712
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPKIB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965761
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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