A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246555



Internal ID21306399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79020540..79203502hg38UCSC Ensembl
Outerchr2:79018982..79210423hg38UCSC Ensembl
Innerchr2:79247666..79430628hg19UCSC Ensembl
Outerchr2:79246108..79437549hg19UCSC Ensembl
Innerchr2:79101174..79284136hg18UCSC Ensembl
Outerchr2:79099616..79291057hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38191442
hg19191442
hg18191442
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169744
Supporting Variants
SamplesNGO_27
Known GenesREG1A, REG1B, REG1P, REG3A, REG3G
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246555
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer