A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539471



Internal ID15161401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145689573..145824903hg38UCSC Ensembl
Innerchr1:145610210..145745492hg19UCSC Ensembl
Innerchr1:144321567..144456849hg18UCSC Ensembl
Innerchr1:143099254..143234536hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38135331
hg19135283
hg18135283
hg17135283
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463450
Supporting Variants
SamplesHGDP00766
Known GenesCD160, LOC100288142, NBPF10, PDZK1, POLR3C, RNF115
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)nssv539471
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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