A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457865



Internal ID15517930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62938848..63036632hg38UCSC Ensembl
Innerchr17:61016209..61113993hg19UCSC Ensembl
Innerchr17:58369941..58467725hg18UCSC Ensembl
Innerchr17:58369941..58467725hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3897785
hg1997785
hg1897785
hg1797785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534972
SamplesHGDP00719
Known GenesMIR548W, TANC2
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)nsv457865
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