A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14245093



Internal ID21309812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248555302..248633912hg38UCSC Ensembl
Outerchr1:248550690..248645256hg38UCSC Ensembl
Innerchr1:248718603..248797213hg19UCSC Ensembl
Outerchr1:248713991..248808557hg19UCSC Ensembl
Innerchr1:246785226..246863836hg18UCSC Ensembl
Outerchr1:246780614..246875180hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3894567
hg1994567
hg1894567
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169954
Supporting Variants
SamplesNGO_52
Known GenesOR2T10, OR2T11, OR2T29, OR2T34, OR2T35
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14245093
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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