A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387639



Internal ID22304299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75048266..75058095hg38UCSC Ensembl
chr7:74462375..74472202hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389830
hg199828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201150
Supporting Variants
SamplesNA19240
Known GenesWBSCR16
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14387639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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