A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1944122



Internal ID17391710
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 StatusS
Merged Variantsnsv983364
Supporting Variants
SamplesHGDP00456
Known GenesHECTD4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1944122
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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