A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495546



Internal ID22553479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138127091..138128766hg38UCSC Ensembl
chr5:137462780..137464455hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg381676
hg191676
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841441
Supporting Variants
Samples
Known GenesNME5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495546
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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