A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466571



Internal ID15179950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127707924..127774438hg38UCSC Ensembl
Innerchr9:130470203..130536717hg19UCSC Ensembl
Innerchr9:129510024..129576538hg18UCSC Ensembl
Innerchr9:127549757..127616271hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3866515
hg1966515
hg1866515
hg1766515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542086
SamplesNINDS_124
Known GenesC9orf117, PTRH1, SH2D3C, TOR2A, TTC16
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)nsv466571
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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