A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975931



Internal ID18611138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57816708..57817391hg38UCSC Ensembl
Innerchr11:57584180..57584863hg19UCSC Ensembl
Innerchr11:57340756..57341439hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38684
hg19684
hg18684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1889705, nssv1889707, nssv1889706, nssv1889712, nssv1889714, nssv1889710, nssv1889709, nssv1889708, nssv1889713, nssv1889711
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCTNND1, TMX2-CTNND1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975931
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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