A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967573



Internal ID18602801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27902749..27903946hg38UCSC Ensembl
Innerchr8:27760266..27761463hg19UCSC Ensembl
Innerchr8:27816185..27817382hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381198
hg191198
hg181198
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2497924, nssv2497921, nssv2497923, nssv2497926, nssv2497925, nssv2497929, nssv2497922, nssv2497920, nssv2497928, nssv2497927
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSCARA5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967573
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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