A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559411



Internal ID16346820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74258017..74296512hg38UCSC Ensembl
Innerchr12:74651797..74690292hg19UCSC Ensembl
Innerchr12:72938064..72976559hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3838496
hg1938496
hg1838496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175872
SamplesHGDP00106
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559411
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer