A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013615



Internal ID19102834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:48332284..48362343hg38UCSC Ensembl
Innerchr1:48797956..48828015hg19UCSC Ensembl
Innerchr1:48570543..48600602hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3830060
hg1930060
hg1830060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3476771
Samples
Known GenesSPATA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013615
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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