A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1964139



Internal ID17811696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52601894..52644361hg38UCSC Ensembl
Innerchr13:53176029..53218496hg19UCSC Ensembl
Innerchr13:52074030..52116497hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3842468
hg1942468
hg1842468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976119
Supporting Variants
SamplesHGDP00927
Known GenesHNRNPA1L2
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)nssv1964139
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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