A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753003



Internal ID20528863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98930304..98930304hg38UCSC Ensembl
chr2:99546767..99546767hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293015
Samples
Known GenesKIAA1211L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753003
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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