A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2330076



Internal ID17799833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:107203337..107204427hg38UCSC Ensembl
Innerchr4:108124494..108125584hg19UCSC Ensembl
Innerchr4:108343943..108345033hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966305
Supporting Variants
SamplesHGDP00778
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)nssv2330076
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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