A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730506



Internal ID20506418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236381271..236381488hg38UCSC Ensembl
chr2:237289914..237290131hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290691
Samples
Known GenesIQCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730506
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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