A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871405



Internal ID22646343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32018418..32018713hg38UCSC Ensembl
chr1:32484019..32484314hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376437
Samples
Known GenesKHDRBS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871405
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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