A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999658



Internal ID18812508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12708960..12799252hg38UCSC Ensembl
Innerchr1:12768962..12859401hg19UCSC Ensembl
Innerchr1:12691549..12781988hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3890293
hg1990440
hg1890440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3462862
Samples
Known GenesAADACL3, C1orf158, PRAMEF1, PRAMEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999658
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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