A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18079978



Internal ID20647018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169646428..169653682hg38UCSC Ensembl
chr2:170502938..170510192hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg387255
hg197255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343603
Supporting Variants
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18079978
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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