A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975697



Internal ID22750632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:74715814..74715814hg38UCSC Ensembl
chr16:74749712..74749712hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380460
Samples
Known GenesFA2H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975697
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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