A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312794



Internal ID17770629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:15489149..15494481hg38UCSC Ensembl
Innerchr4:15490773..15496105hg19UCSC Ensembl
Innerchr4:15099871..15105203hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg385333
hg195333
hg185333
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966255
Supporting Variants
SamplesHGDP00542
Known GenesCC2D2A
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)nssv2312794
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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