A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909119



Internal ID6867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12731271..12732078hg38UCSC Ensembl
chr2:12871397..12872204hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445567
Supporting Variants
Samples
Known GenesTRIB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909119
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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