A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2323174



Internal ID17732062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:73098329..73100402hg38UCSC Ensembl
Innerchr4:73964046..73966119hg19UCSC Ensembl
Innerchr4:74182910..74184983hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382074
hg192074
hg182074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966284
Supporting Variants
SamplesHGDP00456
Known GenesANKRD17
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)nssv2323174
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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