A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050715



Internal ID19139934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12140138..12230886hg38UCSC Ensembl
Innerchr12:12293072..12383820hg19UCSC Ensembl
Innerchr12:12184339..12275087hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3890749
hg1990749
hg1890749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517231
Samples
Known GenesLRP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050715
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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