A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534968



Internal ID15159904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58311566..58339926hg38UCSC Ensembl
Innerchr17:56388927..56417287hg19UCSC Ensembl
Innerchr17:53743926..53772286hg18UCSC Ensembl
Innerchr17:53743926..53772286hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3828361
hg1928361
hg1828361
hg1728361
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457860
Supporting Variants
SamplesHGDP00527
Known GenesBZRAP1, BZRAP1-AS1, MIR142, MIR4736
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)nssv534968
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