A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18052445



Internal ID20619485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160135001..160137500hg38UCSC Ensembl
chr1:160104791..160107290hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318906
Supporting Variants
Samples
Known GenesATP1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18052445
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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