A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956644



Internal ID17398984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24935560..24982709hg38UCSC Ensembl
Innerchr13:25509698..25556847hg19UCSC Ensembl
Innerchr13:24407698..24454847hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3847150
hg1947150
hg1847150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977219
Supporting Variants
SamplesHGDP00521
Known GenesTPTE2P1
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)nssv1956644
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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