A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2309115



Internal ID17490571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:285652..309350hg38UCSC Ensembl
Innerchr4:279441..303139hg19UCSC Ensembl
Innerchr4:269441..293139hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3823699
hg1923699
hg1823699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966244
Supporting Variants
SamplesHGDP00998
Known GenesZNF732
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)nssv2309115
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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