A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005242



Internal ID18747773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17249833..17309505hg38UCSC Ensembl
Innerchr1:17576328..17636000hg19UCSC Ensembl
Innerchr1:17448915..17508587hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3859673
hg1959673
hg1859673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv128n100
Supporting Variantsnssv3463243, nssv3462933
Samples
Known GenesPADI3, PADI4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005242
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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