A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2315005



Internal ID17750796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:17061753..17064031hg38UCSC Ensembl
Innerchr4:17063376..17065654hg19UCSC Ensembl
Innerchr4:16672474..16674752hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382279
hg192279
hg182279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964033
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2315005
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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