A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3169874



Internal ID21313685
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14247263, nssv14242620
SamplesNGO_28, NGO_32
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3169874
Frequency
Sample Size93
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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