A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542097



Internal ID15512866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129396337..129415934hg38UCSC Ensembl
Innerchr9:132158616..132178213hg19UCSC Ensembl
Innerchr9:131198437..131218034hg18UCSC Ensembl
Innerchr9:129238170..129257767hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3819598
hg1919598
hg1819598
hg1719598
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466586
Supporting Variants
SamplesNINDS_71
Known Genes
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)nssv542097
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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