A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466022



Internal ID15179401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144441636..144525122hg38UCSC Ensembl
Innerchr8:145667019..145750506hg19UCSC Ensembl
Innerchr8:145637827..145721314hg18UCSC Ensembl
Innerchr8:145637827..145721314hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3883487
hg1983488
hg1883488
hg1783488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv907n27
Supporting Variantsnssv541669
SamplesHGDP00433
Known GenesCYHR1, FOXH1, GPT, KIFC2, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4, TONSL
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)nsv466022
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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