A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2328231



Internal ID17742769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88163148..88166692hg38UCSC Ensembl
Innerchr4:89084300..89087844hg19UCSC Ensembl
Innerchr4:89303324..89306868hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383545
hg193545
hg183545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966295
Supporting Variants
SamplesHGDP00456
Known GenesABCG2
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)nssv2328231
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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