A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518728



Internal ID15099335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43555801..43614160hg38UCSC Ensembl
Innerchr7:43595400..43653759hg19UCSC Ensembl
Innerchr7:43561925..43620284hg18UCSC Ensembl
Innerchr7:43368640..43426999hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3858360
hg1958360
hg1858360
hg1758360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696178
Samples
Known GenesHECW1, STK17A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518728
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