A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv544128



Internal ID15163303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21426146..21439423hg38UCSC Ensembl
Innerchr12:21579080..21592357hg19UCSC Ensembl
Innerchr12:21470347..21483624hg18UCSC Ensembl
Innerchr12:21470347..21483624hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813278
hg1913278
hg1813278
hg1713278
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469163
Supporting Variants
SamplesHGDP01167
Known GenesPYROXD1
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)nssv544128
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer