A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6432437



Internal ID21089990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117474988..120065962hg38UCSC Ensembl
chr8:118487227..121078201hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382590975
hg192590975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18234010
Samples
Known GenesCOLEC10, DEPTOR, DSCC1, ENPP2, EXT1, MAL2, MED30, NOV, SAMD12, SAMD12-AS1, TAF2, TNFRSF11B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6432437
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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