A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2331138



Internal ID17740768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109673519..109680825hg38UCSC Ensembl
Innerchr4:110594675..110601981hg19UCSC Ensembl
Innerchr4:110814124..110821430hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg387307
hg197307
hg187307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967784
Supporting Variants
SamplesHGDP00456
Known GenesCCDC109B
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)nssv2331138
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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