A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288565



Internal ID22386977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139424842..139425207hg38UCSC Ensembl
chr7:139109588..139109953hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8775n152
Supporting Variantsnssv14458028, nssv14381144
SamplesNA19240, HG00733
Known GenesLOC100129148
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)nsv3288565
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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