A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013743



Internal ID76841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66567052..67159532hg38UCSC Ensembl
chr8:67479287..68071767hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38592481
hg19592481
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560573
Supporting Variants
Samples
Known GenesC8orf44, C8orf44-SGK3, COPS5, CSPP1, MCMDC2, MYBL1, PPP1R42, PTTG3P, SGK3, SNHG6, SNORD87, TCF24, VCPIP1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013743
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000312


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