A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2339700



Internal ID17775364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165210754..165216732hg38UCSC Ensembl
Innerchr4:166131906..166137884hg19UCSC Ensembl
Innerchr4:166351356..166357334hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg385979
hg195979
hg185979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv967809
Supporting Variants
SamplesHGDP00542
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2339700
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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