A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540030



Internal ID15511639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:120046039..120091997hg38UCSC Ensembl
Innerchr6:120367185..120413143hg19UCSC Ensembl
Innerchr6:120408884..120454842hg18UCSC Ensembl
Innerchr6:120408884..120454842hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3845959
hg1945959
hg1845959
hg1745959
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464032
Supporting Variants
SamplesNINDS_125
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)nssv540030
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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