A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv967592



Internal ID18602820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56072730..56073230hg38UCSC Ensembl
Innerchr8:56985289..56985789hg19UCSC Ensembl
Innerchr8:57147843..57148343hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2504450, nssv2504449, nssv2504451, nssv2504454, nssv2504447, nssv2504456, nssv2504452, nssv2504453, nssv2504448, nssv2504455
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPS20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv967592
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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