A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536742



Internal ID15157122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232350750..232458467hg38UCSC Ensembl
Innerchr2:233215460..233323177hg19UCSC Ensembl
Innerchr2:232923704..233031421hg18UCSC Ensembl
Innerchr2:233040965..233148682hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38107718
hg19107718
hg18107718
hg17107718
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460130
Supporting Variants
Samples1780862431_A
Known GenesALPI, ALPP, ALPPL2, ECEL1P2
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)nssv536742
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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