A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465590



Internal ID15178969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17361120..17488285hg38UCSC Ensembl
Innerchr8:17218629..17345794hg19UCSC Ensembl
Innerchr8:17263000..17390156hg18UCSC Ensembl
Innerchr8:17263000..17390156hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38127166
hg19127166
hg18127157
hg17127157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541377
Samples1780854487_A
Known GenesMTMR7
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)nsv465590
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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