A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18083441



Internal ID20650481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214788266..214789009hg38UCSC Ensembl
chr2:215652990..215653733hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351123
Supporting Variants
Samples
Known GenesBARD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18083441
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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