A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729378



Internal ID18680973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234069617..234178307hg38UCSC Ensembl
Innerchr2:234978261..235086951hg19UCSC Ensembl
Innerchr2:234643000..234751690hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38108691
hg19108691
hg18108691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv998149
Supporting Variants
Samples
Known GenesSPP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729378
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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