A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2327228



Internal ID17455255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:87207290..87209154hg38UCSC Ensembl
Innerchr4:88128442..88130306hg19UCSC Ensembl
Innerchr4:88347466..88349330hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381865
hg191865
hg181865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966294
Supporting Variants
SamplesHGDP00778
Known GenesKLHL8
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)nssv2327228
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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