A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082744



Internal ID20649784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178600101..178626900hg38UCSC Ensembl
chr2:179464828..179491627hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3826800
hg1926800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346931
Supporting Variants
Samples
Known GenesMIR548N, TTN, TTN-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082744
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00028


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