A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000553



Internal ID19089770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105753665..105786480hg38UCSC Ensembl
Innerchr1:106296287..106329102hg19UCSC Ensembl
Innerchr1:106097810..106130625hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3832816
hg1932816
hg1832816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3500629
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)nsv1000553
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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