A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005792



Internal ID18748323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16898463..16997938hg38UCSC Ensembl
Innerchr1:17224958..17324433hg19UCSC Ensembl
Innerchr1:17097545..17197020hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3899476
hg1999476
hg1899476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv120n100
Supporting Variantsnssv3481762
Samples
Known GenesATP13A2, CROCC, MFAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005792
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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