A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538007



Internal ID15163316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59509698..59605717hg38UCSC Ensembl
Innerchr1:59975370..60071389hg19UCSC Ensembl
Innerchr1:59747958..59843977hg18UCSC Ensembl
Innerchr1:59687391..59783410hg17UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3896020
hg1996020
hg1896020
hg1796020
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461639
Supporting Variants
SamplesHGDP01171
Known GenesFGGY
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)nssv538007
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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