A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469475



Internal ID15529540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74464177..74528943hg38UCSC Ensembl
Innerchr12:74857957..74922723hg19UCSC Ensembl
Innerchr12:73144224..73208990hg18UCSC Ensembl
Innerchr12:73144224..73208990hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3864767
hg1964767
hg1864767
hg1764767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv205n27
Supporting Variantsnssv544335
Samples1780862109_A
Known Genes
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)nsv469475
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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