A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2175156



Internal ID17439510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:69331563..69332721hg38UCSC Ensembl
Innerchr2:69558695..69559853hg19UCSC Ensembl
Innerchr2:69412199..69413357hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381159
hg191159
hg181159
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979015
Supporting Variants
SamplesHGDP00665
Known GenesGFPT1
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)nssv2175156
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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