A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187404



Internal ID21326237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500071..203500071hg38UCSC Ensembl
chr1:203469199..203469199hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954401
Supporting Variants
SamplesHG002
Known GenesOPTC
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187404
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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