A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7374n152



Internal ID22823077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69590993..71269589hg38UCSC Ensembl
chr5:68886820..70565416hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381678597
hg191678597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198310, nsv3202636, nsv3197280
SamplesNA19239, HG00732, NA19240, HG00733
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7374n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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