A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557744



Internal ID15998467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21535966..21813767hg38UCSC Ensembl
Innerchr12:21688900..21966701hg19UCSC Ensembl
Innerchr12:21580167..21857968hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38277802
hg19277802
hg18277802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789559
Samples
Known GenesABCC9, GYS2, KCNJ8, LDHB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557744
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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