A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542114



Internal ID15512816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133101292..133147666hg38UCSC Ensembl
Innerchr9:135976679..136023053hg19UCSC Ensembl
Innerchr9:134966500..135012874hg18UCSC Ensembl
Innerchr9:133006233..133052607hg17UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3846375
hg1946375
hg1846375
hg1746375
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466610
Supporting Variants
SamplesNINDS_66
Known GenesRALGDS
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)nssv542114
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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