A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18053723



Internal ID20620763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176154968..176155320hg38UCSC Ensembl
chr1:176124104..176124456hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328388
Supporting Variants
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18053723
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0008


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