A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375989



Internal ID22601658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:71458738..71468214hg38UCSC Ensembl
chr1:71924421..71933897hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg389477
hg199477
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5884916
Supporting Variants
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375989
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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