A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17412354



Internal ID22470224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141632244..142199968hg38UCSC Ensembl
chr5:141011811..141579533hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38567725
hg19567723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5901287
Supporting Variants
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)nssv17412354
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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