A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517231



Internal ID18815512
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 StatusS
Merged Variantsnsv1050715
Supporting Variants
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)nssv3517231
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer