A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14418593



Internal ID22155318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3788854..3788854hg38UCSC Ensembl
chr17:3692148..3692148hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543758
Supporting Variants
SamplesHG00514
Known GenesITGAE
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14418593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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