A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054573



Internal ID18797104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:85264824..85841655hg38UCSC Ensembl
Innerchr12:85658602..86235433hg19UCSC Ensembl
Innerchr12:84182733..84759564hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38576832
hg19576832
hg18576832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1537n100
Supporting Variantsnssv3524758
Samples
Known GenesALX1, RASSF9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054573
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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