A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556998



Internal ID15997721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1798687..1824387hg38UCSC Ensembl
Innerchr12:1907853..1933553hg19UCSC Ensembl
Innerchr12:1778114..1803814hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3825701
hg1925701
hg1825701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2273n54
Supporting Variantsnssv1175401
SamplesNINDS_173
Known GenesCACNA2D4, LRTM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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