A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457199



Internal ID15170578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:71969044..72010326hg38UCSC Ensembl
Innerchr15:72261385..72302667hg19UCSC Ensembl
Innerchr15:70048439..70089721hg18UCSC Ensembl
Innerchr15:70048439..70089721hg17UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3841283
hg1941283
hg1841283
hg1741283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534439
SamplesNINDS_222
Known GenesMYO9A
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)nsv457199
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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