A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537354



Internal ID15509317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24660386..24713376hg38UCSC Ensembl
Innerchr1:24986877..25039867hg19UCSC Ensembl
Innerchr1:24859464..24912454hg18UCSC Ensembl
Innerchr1:24732183..24785173hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3852991
hg1952991
hg1852991
hg1752991
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460862
Supporting Variants
SamplesHGDP00974
Known GenesSRRM1
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)nssv537354
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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