A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2331797



Internal ID17836441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:112738575..112739292hg38UCSC Ensembl
Innerchr4:113659731..113660448hg19UCSC Ensembl
Innerchr4:113879180..113879897hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38718
hg19718
hg18718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967788
Supporting Variants
SamplesHGDP00998
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)nssv2331797
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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