A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457140



Internal ID15517205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52609236..52676549hg38UCSC Ensembl
Innerchr15:52901433..52968746hg19UCSC Ensembl
Innerchr15:50688725..50756038hg18UCSC Ensembl
Innerchr15:50688725..50756038hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3867314
hg1967314
hg1867314
hg1767314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534398
Samples1780854103_A
Known GenesFAM214A
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)nsv457140
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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