A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14333483



Internal ID22330237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44225838..44227394hg38UCSC Ensembl
chr7:44265437..44266993hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194061
Supporting Variants
SamplesNA19240
Known GenesCAMK2B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14333483
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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