A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999978



Internal ID18812828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39715819..39846262hg38UCSC Ensembl
Innerchr1:40181491..40311934hg19UCSC Ensembl
Innerchr1:39954078..40084521hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38130444
hg19130444
hg18130444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153n100
Supporting Variantsnssv3700648
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999978
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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