A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998749



Internal ID20565789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122774401..122774800hg38UCSC Ensembl
chr12:123258948..123259347hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477813
Supporting Variants
Samples
Known GenesCCDC62
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998749
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.06831


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