A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975871



Internal ID18264392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1595648..1598547hg38UCSC Ensembl
Innerchr11:1616878..1619777hg19UCSC Ensembl
Innerchr11:1573454..1576353hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382900
hg192900
hg182900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1872445, nssv1872446, nssv1872443, nssv1872441, nssv1872439, nssv1872447, nssv1872448, nssv1872440, nssv1872444, nssv1872442
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKRTAP5-2, KRTAP5-AS1, MOB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975871
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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