A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558996



Internal ID15999719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:53211761..53289202hg38UCSC Ensembl
Innerchr12:53605545..53682986hg19UCSC Ensembl
Innerchr12:51891812..51969253hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3877442
hg1977442
hg1877442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796281
Samples
Known GenesESPL1, MFSD5, RARG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558996
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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