A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983364



Internal ID18271872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:112294268..112302876hg38UCSC Ensembl
Innerchr12:112732072..112740680hg19UCSC Ensembl
Innerchr12:111216455..111225063hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg388609
hg198609
hg188609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1944118, nssv1944123, nssv1944126, nssv1944121, nssv1944119, nssv1944125, nssv1944122, nssv1944120, nssv1944117, nssv1944124
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesHECTD4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983364
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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