A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466577



Internal ID15179956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127906678..127954482hg38UCSC Ensembl
Innerchr9:130668957..130716761hg19UCSC Ensembl
Innerchr9:129708778..129756582hg18UCSC Ensembl
Innerchr9:127748511..127796315hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3847805
hg1947805
hg1847805
hg1747805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542091
SamplesHGDP00668
Known GenesDPM2, FAM102A, PIP5KL1, ST6GALNAC4
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)nsv466577
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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