A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677747



Internal ID15067713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205679..125214846hg38UCSC Ensembl
Innerchr11:125075575..125084742hg19UCSC Ensembl
Innerchr11:124580785..124589952hg18UCSC Ensembl
Innerchr11:124580785..124589952hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg389168
hg199168
hg189168
hg179168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517656
Supporting Variants
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv677747
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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