A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538730



Internal ID15502538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2578743..2604492hg38UCSC Ensembl
Innerchr6:2578977..2604726hg19UCSC Ensembl
Innerchr6:2523976..2549725hg18UCSC Ensembl
Innerchr6:2523976..2549725hg17UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3825750
hg1925750
hg1825750
hg1725750
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462612
Supporting Variants
Samples1780854444_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)nssv538730
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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