A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087623



Internal ID20654663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55895749..55897428hg38UCSC Ensembl
chr2:56122884..56124563hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381680
hg191680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6342056
Supporting Variants
Samples
Known GenesEFEMP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087623
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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