A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418229



Internal ID22476099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1207524..1207658hg38UCSC Ensembl
chr4:1201312..1201446hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900966
Supporting Variants
Samples
Known GenesLOC100130872, SPON2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418229
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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