A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17364368



Internal ID22590037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30997886..30997965hg38UCSC Ensembl
chr1:31470733..31470812hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5870576
Supporting Variants
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17364368
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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