A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011347



Internal ID18753881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206384007..207085773hg38UCSC Ensembl
Innerchr2:207248731..207950497hg19UCSC Ensembl
Innerchr2:206956976..207658742hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38701767
hg19701767
hg18701767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585568
Samples
Known GenesADAM23, CPO, DYTN, FASTKD2, KLF7, LOC200726, MDH1B, MIR3130-1, MIR3130-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011347
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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