A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543356



Internal ID15511751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227036035..227153089hg38UCSC Ensembl
Innerchr1:227223736..227340790hg19UCSC Ensembl
Innerchr1:225290359..225407413hg18UCSC Ensembl
Innerchr1:223530471..223647525hg17UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38117055
hg19117055
hg18117055
hg17117055
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468227
Supporting Variants
SamplesNINDS_142
Known GenesCDC42BPA
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)nssv543356
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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