A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542043



Internal ID15160139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114052381..114104774hg38UCSC Ensembl
Innerchr9:116814661..116867054hg19UCSC Ensembl
Innerchr9:115854482..115906875hg18UCSC Ensembl
Innerchr9:113894215..113946608hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3852394
hg1952394
hg1852394
hg1752394
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466515
Supporting Variants
SamplesHGDP00561
Known GenesAMBP, KIF12, ZNF618
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)nssv542043
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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