A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535486



Internal ID15503566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86158605..86280565hg38UCSC Ensembl
Innerchr2:86385728..86507688hg19UCSC Ensembl
Innerchr2:86239239..86361199hg18UCSC Ensembl
Innerchr2:86297386..86419346hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38121961
hg19121961
hg18121961
hg17121961
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458574
Supporting Variants
Samples1780862345_A
Known GenesIMMT, MIR4779, MRPL35, REEP1
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)nssv535486
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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