A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15182368



Internal ID21321164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129931hg38UCSC Ensembl
chr1:53595125..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3946914
Supporting Variants
SamplesHG002
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15182368
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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