A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18076412



Internal ID20643452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:124268601..124270300hg38UCSC Ensembl
chr2:125026178..125027877hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353215
Supporting Variants
Samples
Known GenesCNTNAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18076412
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00038


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