A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464028



Internal ID15177407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153649744..153750561hg38UCSC Ensembl
Innerchr1:153622220..153723037hg19UCSC Ensembl
Innerchr1:151888844..151989661hg18UCSC Ensembl
Innerchr1:150435293..150536110hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38100818
hg19100818
hg18100818
hg17100818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540027
Samples1780862424_A
Known GenesILF2, INTS3, MIR8083, NPR1, SNAPIN
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)nsv464028
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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