A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046165



Internal ID19135384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:73197754..73283294hg38UCSC Ensembl
Innerchr12:73591534..73677074hg19UCSC Ensembl
Innerchr12:71877801..71963341hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3885541
hg1985541
hg1885541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524624
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)nsv1046165
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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