A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2317754



Internal ID17451631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:47491019..47491632hg38UCSC Ensembl
Innerchr4:47493036..47493649hg19UCSC Ensembl
Innerchr4:47187793..47188406hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38614
hg19614
hg18614
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966265
Supporting Variants
SamplesHGDP00778
Known GenesATP10D
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)nssv2317754
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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