A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242620



Internal ID21306462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75389270..75405998hg38UCSC Ensembl
Outerchr2:75386655..75414069hg38UCSC Ensembl
Innerchr2:75616396..75633124hg19UCSC Ensembl
Outerchr2:75613781..75641195hg19UCSC Ensembl
Innerchr2:75469904..75486632hg18UCSC Ensembl
Outerchr2:75467289..75494703hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3827415
hg1927415
hg1827415
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169874
Supporting Variants
SamplesNGO_28
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242620
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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