A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288537



Internal ID22386948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140035994..140036063hg38UCSC Ensembl
chr7:139735794..139735863hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8777n152
Supporting Variantsnssv14391414, nssv14435915
SamplesNA19240, HG00514
Known GenesPARP12
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)nsv3288537
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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