A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1958005



Internal ID17796491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:28597610..28600816hg38UCSC Ensembl
Innerchr13:29171747..29174953hg19UCSC Ensembl
Innerchr13:28069747..28072953hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383207
hg193207
hg183207
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974074
Supporting Variants
SamplesHGDP00778
Known Genes
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)nssv1958005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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