A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085689



Internal ID20652729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27127401..27132400hg38UCSC Ensembl
chr2:27350269..27355268hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355117
Supporting Variants
Samples
Known GenesABHD1, PREB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085689
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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