A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247263



Internal ID21307187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75379828..75405998hg38UCSC Ensembl
Outerchr2:75379002..75414069hg38UCSC Ensembl
Innerchr2:75606954..75633124hg19UCSC Ensembl
Outerchr2:75606128..75641195hg19UCSC Ensembl
Innerchr2:75460462..75486632hg18UCSC Ensembl
Outerchr2:75459636..75494703hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3835068
hg1935068
hg1835068
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169874
Supporting Variants
SamplesNGO_32
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247263
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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