A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2340712



Internal ID17787031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165255209..165258596hg38UCSC Ensembl
Innerchr4:166176361..166179748hg19UCSC Ensembl
Innerchr4:166395811..166399198hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383388
hg193388
hg183388
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966338
Supporting Variants
SamplesHGDP00665
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2340712
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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