A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195248



Internal ID22345460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66386014..66411625hg38UCSC Ensembl
chr7:65851001..65876612hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3825612
hg1925612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8565n152
Supporting Variantsnssv14437636
SamplesHG00514
Known GenesLINC00174
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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