A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536425



Internal ID15165191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143730799..143759500hg38UCSC Ensembl
Innerchr2:144488368..144517069hg19UCSC Ensembl
Innerchr2:144204838..144233539hg18UCSC Ensembl
Innerchr2:144322100..144350801hg17UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3828702
hg1928702
hg1828702
hg1728702
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459707
Supporting Variants
SamplesNINDS_162
Known GenesARHGAP15
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)nssv536425
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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