A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561585



Internal ID22430353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162791518..162791518hg38UCSC Ensembl
chr1:162761308..162761308hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290566, nssv14290565
SamplesHG00512, HG00513
Known GenesHSD17B7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561585
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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