A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542649



Internal ID22411727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:87626750..87626750hg38UCSC Ensembl
chr7:87256066..87256066hg19UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427891, nssv14400310
SamplesNA19240, HG00514
Known GenesABCB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542649
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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