A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425122



Internal ID204092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:164009389..164322269hg38UCSC Ensembl
chr1:163978626..164291506hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38312881
hg19312881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892044
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425122
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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