A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204323



Internal ID20771363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68494301..68506900hg38UCSC Ensembl
chr1:68959984..68972583hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg3812600
hg1912600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331002
Supporting Variants
Samples
Known GenesDEPDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204323
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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