A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457657



Internal ID15517722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:6189226..6232520hg38UCSC Ensembl
Innerchr17:6092546..6135840hg19UCSC Ensembl
Innerchr17:6033270..6076564hg18UCSC Ensembl
Innerchr17:6033270..6076564hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3843295
hg1943295
hg1843295
hg1743295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534793
SamplesHGDP01264
Known Genes
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)nsv457657
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