A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287504



Internal ID22385908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74369856..74370156hg38UCSC Ensembl
chr7:73784186..73784486hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8597n152
Supporting Variantsnssv14437915
SamplesHG00514
Known GenesCLIP2
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)nsv3287504
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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