A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468977



Internal ID15529042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3155340..3183302hg38UCSC Ensembl
Innerchr12:3264506..3292468hg19UCSC Ensembl
Innerchr12:3134767..3162729hg18UCSC Ensembl
Innerchr12:3134767..3162729hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3827963
hg1927963
hg1827963
hg1727963
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544002
Samples1780862226_A
Known GenesTSPAN9
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)nsv468977
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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