A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453217



Internal ID231348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197034032..198494759hg38UCSC Ensembl
chr1:197003162..198463889hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg381460728
hg191460728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894486
Samples
Known GenesASPM, C1orf53, CRB1, DENND1B, F13B, LHX9, NEK7, ZBTB41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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