A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2349855



Internal ID17861284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:24170600..24171813hg38UCSC Ensembl
Innerchr5:24170709..24171922hg19UCSC Ensembl
Innerchr5:24206466..24207679hg18UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980621
Supporting Variants
SamplesHGDP01284
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2349855
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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