A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17415944



Internal ID22473814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170955595..170955693hg38UCSC Ensembl
chr5:170382599..170382697hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904639
Supporting Variants
Samples
Known GenesRANBP17
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17415944
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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