A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351679



Internal ID22577348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31041533..31042351hg38UCSC Ensembl
chr1:31514380..31515198hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885417
Supporting Variants
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351679
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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