A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv950n27



Internal ID22767679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129384126..129405288hg38UCSC Ensembl
chr9:132146405..132167567hg19UCSC Ensembl
chr9:131186226..131207388hg18UCSC Ensembl
chr9:129225959..129247121hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3821163
hg1921163
hg1821163
hg1721163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466580, nsv466581, nsv466582
SamplesNINDS_60, NINDS_98, NINDS_59
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)dgv950n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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