A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434007



Internal ID212698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79134841..79148687hg38UCSC Ensembl
chr2:79361967..79375813hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3813847
hg1913847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915588
Samples
Known GenesREG1P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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