A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910634



Internal ID7863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27002275..27003486hg38UCSC Ensembl
chr2:27225143..27226354hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381212
hg191212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442213
Supporting Variants
Samples
Known GenesMAPRE3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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