A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1418836



Internal ID15582620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240446935..240468708hg38UCSC Ensembl
Innerchr2:241386352..241408125hg19UCSC Ensembl
Innerchr2:241035025..241056798hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3821774
hg1921774
hg1821774
Variant TypeCNV gain
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv819854
Supporting Variants
SamplesAK1
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisNormalized bead intensity data and genotype calls were obtained with Illumina BeadStudio 3.1 software. Copy number variants (CNVs) were detected on the basis of deflected log R ratios.
PlatformGPL6985
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nssv1418836
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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