A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558888



Internal ID16346297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51820741..51821922hg38UCSC Ensembl
Innerchr12:52214525..52215706hg19UCSC Ensembl
Innerchr12:50500792..50501973hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381182
hg191182
hg181182
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2626n54
Supporting Variantsnssv795948, nssv795951, nssv795949, nssv795947, nssv795952, nssv795950, nssv795946
Samples
Known GenesFIGNL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558888
Frequency
Sample Size17421
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


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