A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013213



Internal ID19102431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72274270..72336809hg38UCSC Ensembl
Innerchr1:72739953..72802492hg19UCSC Ensembl
Innerchr1:72512541..72575080hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3862540
hg1962540
hg1862540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3474707
Samples
Known GenesNEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013213
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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