A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17499368



Internal ID22557303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107400285..107401284hg38UCSC Ensembl
chr5:106735986..106736985hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5840332
Supporting Variants
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17499368
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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