A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446976



Internal ID225290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61163451..61167967hg38UCSC Ensembl
chr2:61390586..61395102hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg384517
hg194517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914889
Samples
Known GenesC2orf74
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446976
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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