A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006294



Internal ID18748825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:9255788..9332029hg38UCSC Ensembl
Innerchr1:9315847..9392088hg19UCSC Ensembl
Innerchr1:9238434..9314675hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3876242
hg1976242
hg1876242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n100
Supporting Variantsnssv3467206
Samples
Known GenesH6PD, SPSB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006294
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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