A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225434



Internal ID22368561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:75270960..75337189hg38UCSC Ensembl
Outerchr7:74686612..74966407hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3866230
hg19279796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278756, nssv14278757
SamplesNA19239, HG00513
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5, SPDYE8P
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225434
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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