A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18150224



Internal ID20717264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:124893196..124893603hg38UCSC Ensembl
chr7:124533250..124533657hg19UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612468
Supporting Variants
Samples
Known GenesPOT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18150224
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0003


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