A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543995



Internal ID15157110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2140902hg38UCSC Ensembl
Innerchr12:2245636..2250068hg19UCSC Ensembl
Innerchr12:2115897..2120329hg18UCSC Ensembl
Innerchr12:2115897..2120329hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384433
hg194433
hg184433
hg174433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468970
Supporting Variants
Samples1780862419_A
Known GenesCACNA1C
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)nssv543995
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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