A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007786



Internal ID18750317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31725560..31830924hg38UCSC Ensembl
Innerchr1:32191161..32296525hg19UCSC Ensembl
Innerchr1:31963748..32069112hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38105365
hg19105365
hg18105365
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3476019
Samples
Known GenesBAI2, MIR4254, SPOCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007786
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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