A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181293



Internal ID20748333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45582701..45632500hg38UCSC Ensembl
chr17:43660067..43709866hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3849800
hg1949800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515296
Supporting Variants
Samples
Known GenesCRHR1, LOC644172, MGC57346
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.14268


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