A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997451



Internal ID20564491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120534301..120535000hg38UCSC Ensembl
chr12:120972104..120972803hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488008
Supporting Variants
Samples
Known GenesRNF10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997451
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00164


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