A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089571



Internal ID20656611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70762501..70765200hg38UCSC Ensembl
chr2:70989633..70992332hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6344153
Supporting Variants
Samples
Known GenesADD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089571
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00409


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