A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537170



Internal ID22406379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156193482..156193482hg38UCSC Ensembl
chr7:155986176..155986176hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463042, nssv14401552
SamplesNA19240, HG00733
Known Genes
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)nsv3537170
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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