A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5888590



Internal ID22663598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71561136..71561269hg38UCSC Ensembl
chr5:70856963..70857096hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424574
Samples
Known GenesBDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5888590
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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