A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468974



Internal ID15529039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2972454..2980394hg38UCSC Ensembl
Innerchr12:3081620..3089560hg19UCSC Ensembl
Innerchr12:2951881..2959821hg18UCSC Ensembl
Innerchr12:2951881..2959821hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387941
hg197941
hg187941
hg177941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543999
SamplesHGDP00628
Known GenesTEAD4
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)nsv468974
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