A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206935



Internal ID20773975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38728101..38744100hg38UCSC Ensembl
chr2:38955243..38971242hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816000
hg1916000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342723
Supporting Variants
Samples
Known GenesGALM, SRSF7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206935
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02905


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