A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1968002



Internal ID17847570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71673306..71675890hg38UCSC Ensembl
Innerchr13:72247438..72250022hg19UCSC Ensembl
Innerchr13:71145439..71148023hg18UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg382585
hg192585
hg182585
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976132
Supporting Variants
SamplesHGDP01029
Known GenesDACH1
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)nssv1968002
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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