A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18100832



Internal ID20667872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38450397..38451826hg38UCSC Ensembl
chr3:38491888..38493317hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg381430
hg191430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6369057
Supporting Variants
Samples
Known GenesACVR2B-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18100832
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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