A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083420



Internal ID20650460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214512636..214513164hg38UCSC Ensembl
chr2:215377360..215377888hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346763
Supporting Variants
Samples
Known GenesVWC2L, VWC2L-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083420
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00153


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