A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540071



Internal ID15510370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:153456411..153489668hg38UCSC Ensembl
Innerchr6:153777546..153810803hg19UCSC Ensembl
Innerchr6:153819239..153852496hg18UCSC Ensembl
Innerchr6:153869660..153902917hg17UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3833258
hg1933258
hg1833258
hg1733258
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464083
Supporting Variants
SamplesHGDP01237
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)nssv540071
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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