A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466573



Internal ID15179952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:127735841..127787855hg38UCSC Ensembl
Innerchr9:130498120..130550134hg19UCSC Ensembl
Innerchr9:129537941..129589955hg18UCSC Ensembl
Innerchr9:127577674..127629688hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3852015
hg1952015
hg1852015
hg1752015
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542088
SamplesHGDP00774
Known GenesCDK9, MIR2861, MIR3960, SH2D3C
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)nsv466573
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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