A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374808



Internal ID22321305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17437673..17437673hg38UCSC Ensembl
chr1:17764169..17764169hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532997
Supporting Variants
SamplesNA19240
Known GenesRCC2
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)nssv14374808
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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