A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537365



Internal ID15502708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:145604180..145673313hg38UCSC Ensembl
Innerchr3:145321967..145391100hg19UCSC Ensembl
Innerchr3:146804657..146873790hg18UCSC Ensembl
Innerchr3:146804665..146873798hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3869134
hg1969134
hg1869134
hg1769134
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460880
Supporting Variants
Samples1780854491_A
Known Genes
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)nssv537365
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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