A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1972885



Internal ID17782618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100150536..100151228hg38UCSC Ensembl
Innerchr13:100802790..100803482hg19UCSC Ensembl
Innerchr13:99600791..99601483hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977272
Supporting Variants
SamplesHGDP00665
Known GenesPCCA
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)nssv1972885
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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