A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2343009



Internal ID17748397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184296683..184300613hg38UCSC Ensembl
Innerchr4:185217836..185221766hg19UCSC Ensembl
Innerchr4:185454830..185458760hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383931
hg193931
hg183931
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967819
Supporting Variants
SamplesHGDP00521
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)nssv2343009
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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