A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967557



Internal ID18602785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7546090..7616532hg38UCSC Ensembl
Innerchr8:7403612..7474054hg19UCSC Ensembl
Innerchr8:7391022..7461464hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3870443
hg1970443
hg1870443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2494941, nssv2494940, nssv2494946, nssv2494937, nssv2494944, nssv2494938, nssv2494945, nssv2494942, nssv2494943, nssv2494939
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFAM90A7P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967557
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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