A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002973



Internal ID19092190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:104003415..104098945hg38UCSC Ensembl
Innerchr1:104546037..104641567hg19UCSC Ensembl
Innerchr1:104347560..104443090hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3895531
hg1995531
hg1895531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv230n100
Supporting Variantsnssv3487956
Samples
Known GenesLOC100129138
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002973
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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