A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556857



Internal ID15997580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:170292..268738hg38UCSC Ensembl
Innerchr12:279458..377904hg19UCSC Ensembl
Innerchr12:149719..248165hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3898447
hg1998447
hg1898447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176235
SamplesHGDP00937
Known GenesIQSEC3, SLC6A12, SLC6A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556857
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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