A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544129



Internal ID15165081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:22465671..22513597hg38UCSC Ensembl
Innerchr12:22618605..22666531hg19UCSC Ensembl
Innerchr12:22509872..22557798hg18UCSC Ensembl
Innerchr12:22509872..22557798hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3847927
hg1947927
hg1847927
hg1747927
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469166
Supporting Variants
SamplesNINDS_145
Known GenesC2CD5
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)nssv544129
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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