A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557761



Internal ID15998484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23683278..23707706hg38UCSC Ensembl
Innerchr12:23836212..23860640hg19UCSC Ensembl
Innerchr12:23727479..23751907hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3824429
hg1924429
hg1824429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175447
SamplesNINDS_106
Known GenesSOX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557761
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