A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339124



Internal ID17505380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:164196402..164197687hg38UCSC Ensembl
Innerchr4:165117554..165118839hg19UCSC Ensembl
Innerchr4:165337004..165338289hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381286
hg191286
hg181286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966335
Supporting Variants
SamplesHGDP01029
Known GenesANP32C, MARCH1
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)nssv2339124
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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