A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1956140



Internal ID17483867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24446640..24451875hg38UCSC Ensembl
Innerchr13:25020778..25026013hg19UCSC Ensembl
Innerchr13:23918778..23924013hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg385236
hg195236
hg185236
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976092
Supporting Variants
SamplesHGDP00998
Known GenesPARP4
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)nssv1956140
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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