A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562976



Internal ID16350385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:101690391..101696684hg38UCSC Ensembl
Innerchr13:102342741..102349034hg19UCSC Ensembl
Innerchr13:101140742..101147035hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg386294
hg196294
hg186294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148925
SamplesNINDS_45
Known GenesITGBL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562976
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