A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538182



Internal ID15166358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6413234..6504096hg38UCSC Ensembl
Innerchr1:6473294..6564156hg19UCSC Ensembl
Innerchr1:6395881..6486743hg18UCSC Ensembl
Innerchr1:6407560..6498422hg17UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3890863
hg1990863
hg1890863
hg1790863
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461839
Supporting Variants
SamplesNINDS_98
Known GenesESPN, HES2, MIR4252, PLEKHG5, TNFRSF25
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)nssv538182
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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