A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376247



Internal ID22601916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4946346..4946412hg38UCSC Ensembl
chr1:5006406..5006472hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880076
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376247
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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