A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542090



Internal ID15507640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127790636..127856098hg38UCSC Ensembl
Innerchr9:130552915..130618377hg19UCSC Ensembl
Innerchr9:129592736..129658198hg18UCSC Ensembl
Innerchr9:127632469..127697931hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3865463
hg1965463
hg1865463
hg1765463
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466576
Supporting Variants
SamplesHGDP00688
Known GenesCDK9, ENG, FPGS
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)nssv542090
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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