A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013692



Internal ID18756224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235085672..235516444hg38UCSC Ensembl
Innerchr2:235994316..236425088hg19UCSC Ensembl
Innerchr2:235659055..236089827hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38430773
hg19430773
hg18430773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4191n100
Supporting Variantsnssv3586947
Samples
Known GenesAGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013692
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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