A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763691



Internal ID20539551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56719761..56719761hg38UCSC Ensembl
chr1:57185434..57185434hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283039
Samples
Known GenesC1orf168
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763691
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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