A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14318271



Internal ID22326368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240562830..240563020hg38UCSC Ensembl
chr1:240726130..240726320hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524989
Supporting Variants
SamplesNA19240
Known GenesGREM2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14318271
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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