A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17492254



Internal ID22550181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112304134..112311484hg38UCSC Ensembl
chr4:113225290..113232640hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5837298
Supporting Variants
Samples
Known GenesALPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17492254
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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