A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185754



Internal ID20752794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50415401..50421600hg38UCSC Ensembl
chr10:52175161..52181360hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386200
hg196200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6436518
Supporting Variants
Samples
Known GenesSGMS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185754
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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