A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541801



Internal ID15507109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:11453474..11645495hg38UCSC Ensembl
Innerchr9:11453474..11645495hg19UCSC Ensembl
Innerchr9:11443474..11635495hg18UCSC Ensembl
Innerchr9:11443474..11635495hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38192022
hg19192022
hg18192022
hg17192022
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv466186
Supporting Variants
SamplesHGDP00608
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)nssv541801
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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