A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540005



Internal ID15507863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:103088006..103693741hg38UCSC Ensembl
Innerchr6:103535881..104141616hg19UCSC Ensembl
Innerchr6:103642574..104248309hg18UCSC Ensembl
Innerchr6:103642574..104248309hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38605736
hg19605736
hg18605736
hg17605736
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464002
Supporting Variants
SamplesHGDP00731
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)nssv540005
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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