A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194199



Internal ID21333093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45497673..45497673hg38UCSC Ensembl
chr1:45963345..45963345hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933179
Supporting Variants
SamplesHG002
Known GenesCCDC163P
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194199
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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