A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177751



Internal ID20744791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64462701..64467800hg38UCSC Ensembl
chr14:64929419..64934518hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488813
Supporting Variants
Samples
Known GenesAKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177751
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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