A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191572



Internal ID20758612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73592601..73761100hg38UCSC Ensembl
chr10:75352359..75520858hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38168500
hg19168500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6444761
Supporting Variants
Samples
Known GenesAGAP5, BMS1P4, GLUD1P3, MYOZ1, SEC24C, SYNPO2L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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