A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762815



Internal ID20538675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51804417..51804417hg38UCSC Ensembl
chr1:52270089..52270089hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16259461
Samples
Known GenesNRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762815
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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