A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415604



Internal ID194860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120938317..120938889hg38UCSC Ensembl
chr1:144315088..144315660hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38573
hg19573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889977
Samples
Known GenesLINC00623, LOC100288142, LOC728875
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415604
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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