A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971665



Internal ID18260196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:73291015..73293598hg38UCSC Ensembl
Innerchr8:74203250..74205833hg19UCSC Ensembl
Innerchr8:74365804..74368387hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg382584
hg192584
hg182584
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2506777, nssv2506780, nssv2506773, nssv2506776, nssv2506781, nssv2506782, nssv2506775, nssv2506774, nssv2506779, nssv2506778
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL7
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971665
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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