A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2315191



Internal ID17784222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:24771118..24774585hg38UCSC Ensembl
Innerchr4:24772740..24776207hg19UCSC Ensembl
Innerchr4:24381838..24385305hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg383468
hg193468
hg183468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966257
Supporting Variants
SamplesHGDP00665
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)nssv2315191
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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