A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466679



Internal ID15180058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136619086..136723384hg38UCSC Ensembl
Innerchr9:139513538..139617836hg19UCSC Ensembl
Innerchr9:138633359..138737657hg18UCSC Ensembl
Innerchr9:136789375..136893673hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38104299
hg19104299
hg18104299
hg17104299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv957n27
Supporting Variantsnssv542161
Samples1780862388_A
Known GenesAGPAT2, EGFL7, FAM69B, MIR126
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)nsv466679
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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