A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469410



Internal ID15182789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55704254..55777109hg38UCSC Ensembl
Innerchr12:56098038..56170893hg19UCSC Ensembl
Innerchr12:54384305..54457160hg18UCSC Ensembl
Innerchr12:54384305..54457160hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3872856
hg1972856
hg1872856
hg1772856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544274
Samples1780862573_A
Known GenesBLOC1S1, BLOC1S1-RDH5, CD63, GDF11, ITGA7, RDH5, SARNP
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)nsv469410
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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