A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560932



Internal ID16001655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131847562..131873120hg38UCSC Ensembl
Innerchr12:132332107..132357665hg19UCSC Ensembl
Innerchr12:130898060..130923618hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3825559
hg1925559
hg1825559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805446
Samples
Known GenesMMP17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560932
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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