A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819507



Internal ID15584208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238150843..238167171hg38UCSC Ensembl
Innerchr2:239059484..239075812hg19UCSC Ensembl
Innerchr2:238724223..238740551hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816329
hg1916329
hg1816329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1418814, nssv1418835
SamplesAK1
Known GenesKLHL30
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)nsv819507
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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