A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247584



Internal ID21309802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79069893..79203502hg38UCSC Ensembl
Outerchr2:79056326..79210423hg38UCSC Ensembl
Innerchr2:79297019..79430628hg19UCSC Ensembl
Outerchr2:79283452..79437549hg19UCSC Ensembl
Innerchr2:79150527..79284136hg18UCSC Ensembl
Outerchr2:79136960..79291057hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38154098
hg19154098
hg18154098
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169744
Supporting Variants
SamplesNGO_52
Known GenesREG1A, REG1B, REG1P, REG3A
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247584
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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