A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010093



Internal ID18752624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237552028..237659033hg38UCSC Ensembl
Innerchr2:238460671..238567676hg19UCSC Ensembl
Innerchr2:238125410..238232415hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38107006
hg19107006
hg18107006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586956
Samples
Known GenesLRRFIP1, MLPH, PRLH, RAB17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010093
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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