A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1962558



Internal ID17532724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44938893..44941061hg38UCSC Ensembl
Innerchr13:45513028..45515196hg19UCSC Ensembl
Innerchr13:44411028..44413196hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg382169
hg192169
hg182169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974085
Supporting Variants
SamplesHGDP01307
Known GenesNUFIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1962558
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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