A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003734



Internal ID18746265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164651790..164720654hg38UCSC Ensembl
Innerchr2:165508300..165577164hg19UCSC Ensembl
Innerchr2:165216546..165285410hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3868865
hg1968865
hg1868865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729267
Samples
Known GenesCOBLL1, SNORA70F
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003734
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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