A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008421



Internal ID19097639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67190252..67249087hg38UCSC Ensembl
Innerchr2:67417384..67476219hg19UCSC Ensembl
Innerchr2:67270888..67329723hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3858836
hg1958836
hg1858836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577277
Samples
Known GenesLOC644838
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008421
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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