A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461006



Internal ID15174385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30874473..30902722hg38UCSC Ensembl
Innerchr1:31347320..31375569hg19UCSC Ensembl
Innerchr1:31119907..31148156hg18UCSC Ensembl
Innerchr1:31016413..31044662hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3828250
hg1928250
hg1828250
hg1728250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537462
SamplesHGDP01077
Known GenesSDC3
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)nsv461006
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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