A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3556752



Internal ID22425573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72278302..72278302hg38UCSC Ensembl
chr11:71989346..71989346hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382624
hg192624
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14442652, nssv14382281
SamplesNA19240, HG00733
Known Genes
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)nsv3556752
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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