A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975204



Internal ID18610412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:76349867..76354070hg38UCSC Ensembl
Innerchr11:76060911..76065114hg19UCSC Ensembl
Innerchr11:75738559..75742762hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg384204
hg194204
hg184204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1896534, nssv1896535, nssv1896537, nssv1896532, nssv1896528, nssv1896529, nssv1896530, nssv1896533, nssv1896536, nssv1896531
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPRKRIR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975204
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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