A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080989



Internal ID20648029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181910201..181911500hg38UCSC Ensembl
chr2:182774928..182776227hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6347334
Supporting Variants
Samples
Known GenesSSFA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080989
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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