A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321843



Internal ID20854951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186131461..186132121hg38UCSC Ensembl
chr1:186100593..186101253hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18054252
Samples
Known GenesHMCN1, MIR548F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321843
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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