A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971657



Internal ID18606874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:58447971..58451353hg38UCSC Ensembl
Innerchr8:59360530..59363912hg19UCSC Ensembl
Innerchr8:59523084..59526466hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg383383
hg193383
hg183383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2505890, nssv2505891, nssv2505888, nssv2505886, nssv2505884, nssv2505883, nssv2505882, nssv2505885, nssv2505887, nssv2505889
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBXN2B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971657
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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