A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv969439



Internal ID18257980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118579553..118592507hg38UCSC Ensembl
Innerchr6:118900716..118913670hg19UCSC Ensembl
Innerchr6:119007409..119020363hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3812955
hg1912955
hg1812955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2421283, nssv2421282, nssv2421279, nssv2421274, nssv2421275, nssv2421281, nssv2421277, nssv2421278, nssv2421280, nssv2421276
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEP85L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv969439
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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