A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541745



Internal ID15502405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:6697128..6724015hg38UCSC Ensembl
Innerchr9:6697128..6724015hg19UCSC Ensembl
Innerchr9:6687128..6714015hg18UCSC Ensembl
Innerchr9:6687128..6714015hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3826888
hg1926888
hg1826888
hg1726888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466114
Supporting Variants
Samples1780854338_A
Known GenesKDM4C
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)nssv541745
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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