A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1965409



Internal ID17830851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:58528723..58530965hg38UCSC Ensembl
Innerchr13:59102857..59105099hg19UCSC Ensembl
Innerchr13:58000858..58003100hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg382243
hg192243
hg182243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976123
Supporting Variants
SamplesHGDP00998
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)nssv1965409
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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