A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14312986



Internal ID22265765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56693472..56693571hg38UCSC Ensembl
chr4:57559638..57559737hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197440
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14312986
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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