A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758712



Internal ID20534572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174937736..174937736hg38UCSC Ensembl
chr1:174906873..174906873hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286883
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758712
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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