A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007237



Internal ID19096456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186168592..186257370hg38UCSC Ensembl
Innerchr1:186137724..186226502hg19UCSC Ensembl
Innerchr1:184404347..184493125hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3888779
hg1988779
hg1888779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492487
Samples
Known GenesHMCN1, MIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007237
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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