A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083419



Internal ID20650459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214494915..214495523hg38UCSC Ensembl
chr2:215359639..215360247hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347013
Supporting Variants
Samples
Known GenesVWC2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083419
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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