A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997291



Internal ID18810141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1306835..1376336hg38UCSC Ensembl
Innerchr1:1242215..1311716hg19UCSC Ensembl
Innerchr1:1232078..1301579hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3869502
hg1969502
hg1869502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3463548
Samples
Known GenesACAP3, AURKAIP1, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, MXRA8, PUSL1, TAS1R3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997291
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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