A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534847



Internal ID15505893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:22203657..22530697hg38UCSC Ensembl
Innerchr17:21730263..22030023hg19UCSC Ensembl
Innerchr17:21654390..21954150hg18UCSC Ensembl
Innerchr17:21654390..21954150hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38327041
hg19299761
hg18299761
hg17299761
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457715
Supporting Variants
SamplesHGDP00264
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv534847
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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