A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044954



Internal ID19134173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73915755..74030129hg38UCSC Ensembl
Innerchr12:74309535..74423909hg19UCSC Ensembl
Innerchr12:72595802..72710176hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38114375
hg19114375
hg18114375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1527n100
Supporting Variantsnssv3524629, nssv3524631, nssv3524632, nssv3712552, nssv3524630
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044954
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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