A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443964



Internal ID222348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182678205..182680816hg38UCSC Ensembl
chr1:182647340..182649951hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382612
hg192612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892817
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443964
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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