A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194220



Internal ID21333117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47184459..47184459hg38UCSC Ensembl
chr1:47650131..47650131hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3935480
Supporting Variants
SamplesHG002
Known GenesPDZK1IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194220
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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