A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427629



Internal ID22485499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79121675..79125249hg38UCSC Ensembl
chr5:78417498..78421072hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg383575
hg193575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892991
Supporting Variants
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427629
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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