A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297248



Internal ID22257354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236344923..236345003hg38UCSC Ensembl
chr2:237253566..237253646hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208678
Supporting Variants
SamplesNA19238
Known GenesIQCA1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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