A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457847



Internal ID15517912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54121732..54217655hg38UCSC Ensembl
Innerchr17:52199093..52295016hg19UCSC Ensembl
Innerchr17:49554092..49650015hg18UCSC Ensembl
Innerchr17:49554092..49650015hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3895924
hg1995924
hg1895924
hg1795924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534956
Samples1780854496_A
Known GenesMIR548AJ2
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)nsv457847
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