A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542162



Internal ID15156491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136640251..136725859hg38UCSC Ensembl
Innerchr9:139534703..139620311hg19UCSC Ensembl
Innerchr9:138654524..138740132hg18UCSC Ensembl
Innerchr9:136810540..136896148hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3885609
hg1985609
hg1885609
hg1785609
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466680
Supporting Variants
Samples1780862100_A
Known GenesAGPAT2, EGFL7, FAM69B, MIR126, SNHG7
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)nssv542162
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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