A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412977



Internal ID22470847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118282841..118282934hg38UCSC Ensembl
chr5:117618536..117618629hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903894
Supporting Variants
Samples
Known GenesLOC100505811
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17412977
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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