A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048099



Internal ID19137318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:97672233..97744335hg38UCSC Ensembl
Innerchr12:98066011..98138113hg19UCSC Ensembl
Innerchr12:96590142..96662244hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3872103
hg1972103
hg1872103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712591
Samples
Known GenesLOC643711
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048099
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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