A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463153



Internal ID15523218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:73519535..73580568hg38UCSC Ensembl
Innerchr6:74229258..74290291hg19UCSC Ensembl
Innerchr6:74285979..74347012hg18UCSC Ensembl
Innerchr6:74285979..74347012hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3861034
hg1961034
hg1861034
hg1761034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539180
SamplesHGDP00520
Known GenesEEF1A1
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)nsv463153
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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