A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388773



Internal ID22446643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8857263..8857263hg38UCSC Ensembl
chr16:8951120..8951120hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976358
Supporting Variants
Samples
Known GenesCARHSP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388773
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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