A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212006



Internal ID22359383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141697656..141711289hg38UCSC Ensembl
Outerchr7:141397456..141411089hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg385962
hg195962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280186
SamplesNA19239
Known GenesKIAA1147, WEE2, WEE2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212006
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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