A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083405



Internal ID20650445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214412943..214413290hg38UCSC Ensembl
chr2:215277667..215278014hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355000
Supporting Variants
Samples
Known GenesVWC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083405
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00274


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