A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15197475



Internal ID21336271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59171974..59172084hg38UCSC Ensembl
chr5:58467800..58467910hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3937737
Supporting Variants
SamplesHG002
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15197475
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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