A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4756675



Internal ID20532535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19964613..19964613hg38UCSC Ensembl
chr17:19867926..19867926hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261775
Samples
Known GenesAKAP10
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4756675
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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