A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538728



Internal ID15503763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:1577201..1597922hg38UCSC Ensembl
Innerchr6:1577436..1598157hg19UCSC Ensembl
Innerchr6:1522435..1543156hg18UCSC Ensembl
Innerchr6:1522435..1543156hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3820722
hg1920722
hg1820722
hg1720722
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462610
Supporting Variants
Samples1780862414_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)nssv538728
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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