A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894078



Internal ID22669147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141632148..142199870hg38UCSC Ensembl
chr5:141011715..141579435hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38567723
hg19567721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411212
Samples
Known GenesARAP3, FCHSD1, GNPDA1, HDAC3, KIAA0141, LOC729080, NDFIP1, PCDH1, PCDH12, RELL2, RNF14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894078
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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