A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543999



Internal ID15507235
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 StatusS
Merged Variantsnsv468974
Supporting Variants
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)nssv543999
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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