A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089409



Internal ID20656449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47529729..47530901hg38UCSC Ensembl
chr2:47756868..47758040hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381173
hg191173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6339750
Supporting Variants
Samples
Known GenesKCNK12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089409
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00021


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