A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469167



Internal ID15182546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:23683278..23707706hg38UCSC Ensembl
Innerchr12:23836212..23860640hg19UCSC Ensembl
Innerchr12:23727479..23751907hg18UCSC Ensembl
Innerchr12:23727479..23751907hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3824429
hg1924429
hg1824429
hg1724429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544130
SamplesNINDS_106
Known GenesSOX5
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)nsv469167
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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