A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460740



Internal ID15174119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21563013..21572998hg38UCSC Ensembl
Innerchr1:21889506..21899491hg19UCSC Ensembl
Innerchr1:21762093..21772078hg18UCSC Ensembl
Innerchr1:21634812..21644797hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg389986
hg199986
hg189986
hg179986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537258
SamplesNINDS_181
Known GenesALPL
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)nsv460740
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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