A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432740



Internal ID211476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149956738..149957487hg38UCSC Ensembl
chr1:149928650..149929399hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891126
Samples
Known GenesOTUD7B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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