A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537929



Internal ID15508515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54303656..54321736hg38UCSC Ensembl
Innerchr1:54769329..54787409hg19UCSC Ensembl
Innerchr1:54541917..54559997hg18UCSC Ensembl
Innerchr1:54481350..54499430hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3818081
hg1918081
hg1818081
hg1718081
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461550
Supporting Variants
SamplesHGDP00857
Known GenesSSBP3
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)nssv537929
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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