A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18081000



Internal ID20648040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182020850..182073834hg38UCSC Ensembl
chr2:182885577..182938561hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3852985
hg1952985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343617
Supporting Variants
Samples
Known GenesPPP1R1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18081000
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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