A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468986



Internal ID15529051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4616902..4642632hg38UCSC Ensembl
Innerchr12:4726068..4751798hg19UCSC Ensembl
Innerchr12:4596329..4622059hg18UCSC Ensembl
Innerchr12:4596329..4622059hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3825731
hg1925731
hg1825731
hg1725731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544009
Samples1780854545_A
Known GenesAKAP3
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)nsv468986
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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