A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1961676



Internal ID17844386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44592736..44597005hg38UCSC Ensembl
Innerchr13:45166872..45171141hg19UCSC Ensembl
Innerchr13:44064872..44069141hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg384270
hg194270
hg184270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977233
Supporting Variants
SamplesHGDP01029
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)nssv1961676
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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