A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287945



Internal ID22386352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76265825..76266169hg38UCSC Ensembl
chr7:75895143..75895487hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8606n152
Supporting Variantsnssv14381674, nssv14437927
SamplesNA19240, HG00514
Known GenesSRRM3
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)nsv3287945
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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