A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247406



Internal ID21306645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77746919..77749571hg38UCSC Ensembl
Outerchr2:77745927..77749572hg38UCSC Ensembl
Innerchr2:77974045..77976697hg19UCSC Ensembl
Outerchr2:77973053..77976698hg19UCSC Ensembl
Innerchr2:77827553..77830205hg18UCSC Ensembl
Outerchr2:77826561..77830206hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg383646
hg193646
hg183646
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169944
Supporting Variants
SamplesNGO_29
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247406
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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