A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466601



Internal ID15526666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130894835..130934388hg38UCSC Ensembl
Innerchr9:133770222..133809775hg19UCSC Ensembl
Innerchr9:132760043..132799596hg18UCSC Ensembl
Innerchr9:130799776..130839329hg17UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg3839554
hg1939554
hg1839554
hg1739554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542109
SamplesNINDS_271
Known GenesFIBCD1
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)nsv466601
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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