A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089371



Internal ID20656411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46937237..46941428hg38UCSC Ensembl
chr2:47164376..47168567hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg384192
hg194192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336809
Supporting Variants
Samples
Known GenesMCFD2, TTC7A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089371
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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