A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17417911



Internal ID22475781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14729939..14737913hg38UCSC Ensembl
chr5:14730048..14738022hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg387975
hg197975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904252
Supporting Variants
Samples
Known GenesANKH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17417911
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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