A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043069



Internal ID18785600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126387289..126745649hg38UCSC Ensembl
Innerchr12:126871835..127230195hg19UCSC Ensembl
Innerchr12:125437788..125796148hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38358361
hg19358361
hg18358361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1570n100
Supporting Variantsnssv3526136, nssv3526135
Samples
Known GenesLINC00943, LINC00944, LOC100128554
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043069
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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