A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366596



Internal ID22592265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167468294..167470310hg38UCSC Ensembl
chr1:167437531..167439547hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382017
hg192017
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881291
Supporting Variants
Samples
Known GenesCD247
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366596
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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