A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18062976



Internal ID20630016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75145619..75146263hg38UCSC Ensembl
chr1:75611304..75611948hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333403
Supporting Variants
Samples
Known GenesLHX8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18062976
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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