A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971681



Internal ID18606898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86503781..86506900hg38UCSC Ensembl
Innerchr8:87516010..87519129hg19UCSC Ensembl
Innerchr8:87585126..87588245hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg383120
hg193120
hg183120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2512644, nssv2512647, nssv2512645, nssv2512648, nssv2512639, nssv2512640, nssv2512641, nssv2512642, nssv2512643, nssv2512646
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRMDN1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971681
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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