A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15188875



Internal ID21327716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182068991..182068991hg38UCSC Ensembl
chr1:182038126..182038126hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939043
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15188875
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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