A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18224985



Internal ID20792025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36549033..39054169hg38UCSC Ensembl
chr6:36516810..39021945hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382505137
hg192505136
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405338
Supporting Variants
Samples
Known GenesBTBD9, C6orf89, CCDC167, CDKN1A, CMTR1, CPNE5, DNAH8, FGD2, GLO1, GLP1R, LOC100131047, MDGA1, MIR3925, MIR4462, MTCH1, PI16, PIM1, PPIL1, RAB44, RNF8, SRSF3, TBC1D22B, TMEM217, ZFAND3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18224985
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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