A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050908



Internal ID20617948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111448701..111449300hg38UCSC Ensembl
chr1:111991323..111991922hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326332
Supporting Variants
Samples
Known GenesATP5F1, WDR77
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050908
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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