A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999404



Internal ID18812254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16850538..16997938hg38UCSC Ensembl
Innerchr1:17177033..17324433hg19UCSC Ensembl
Innerchr1:17049620..17197020hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38147401
hg19147401
hg18147401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv108n100
Supporting Variantsnssv3480169
Samples
Known GenesATP13A2, CROCC, MFAP2, MIR3675
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999404
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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