A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004284



Internal ID19093501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:220327166..220825252hg38UCSC Ensembl
Innerchr2:221191887..221689972hg19UCSC Ensembl
Innerchr2:220900131..221398216hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38498087
hg19498086
hg18498086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586820
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004284
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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