A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998684



Internal ID18811534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39715819..39800418hg38UCSC Ensembl
Innerchr1:40181491..40266090hg19UCSC Ensembl
Innerchr1:39954078..40038677hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3884600
hg1984600
hg1884600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152n100
Supporting Variantsnssv3479314
Samples
Known GenesBMP8B, OXCT2, PPIE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998684
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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