A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053122



Internal ID20620162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173469853..173473750hg38UCSC Ensembl
chr1:173438992..173442889hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325726
Supporting Variants
Samples
Known GenesLOC100506023
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053122
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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