A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434047



Internal ID212736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211309861..211309915hg38UCSC Ensembl
chr1:211483203..211483257hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895047
Samples
Known GenesRCOR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434047
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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