A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185468



Internal ID21324276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108689608..108689608hg38UCSC Ensembl
chr1:109232230..109232230hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3936314
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185468
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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