A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999717



Internal ID19159253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:105076268..105155119hg38UCSC Ensembl
Innerchr1:105618890..105697741hg19UCSC Ensembl
Innerchr1:105420413..105499264hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3878852
hg1978852
hg1878852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3483678
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999717
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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