A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227031



Internal ID20794071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29881401..30173300hg38UCSC Ensembl
chr6:29849178..30141077hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38291900
hg19291900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411845
Supporting Variants
Samples
Known GenesHCG4B, HCG8, HCG9, HLA-A, HLA-H, HLA-J, PPP1R11, RNF39, TRIM10, TRIM15, TRIM31, TRIM40, ZNRD1, ZNRD1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227031
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00021


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