A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538995



Internal ID15502954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48512528..48630463hg38UCSC Ensembl
Innerchr6:48480264..48598199hg19UCSC Ensembl
Innerchr6:48588223..48706158hg18UCSC Ensembl
Innerchr6:48588223..48706158hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38117936
hg19117936
hg18117936
hg17117936
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462942
Supporting Variants
Samples1780862014_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)nssv538995
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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