A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081405



Internal ID20648445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174904001..174909500hg38UCSC Ensembl
chr2:175768729..175774228hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341165
Supporting Variants
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081405
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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