A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15175725



Internal ID21314521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190703..108193180hg38UCSC Ensembl
chr1:108733325..108735802hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382478
hg192478
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929845
Supporting Variants
SamplesHG002
Known GenesSLC25A24
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15175725
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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