A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18004052



Internal ID20571092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:757601..764500hg38UCSC Ensembl
chr12:866767..873666hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6471636
Supporting Variants
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18004052
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.07972


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