A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012720



Internal ID18755252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143692876..143811505hg38UCSC Ensembl
Innerchr1:149187527..149306056hg19UCSC Ensembl
Innerchr1:147454151..147572680hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38118630
hg19118530
hg18118530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3496624
Samples
Known GenesLOC388692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012720
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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