A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002137



Internal ID18744668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143412247..143440942hg38UCSC Ensembl
Innerchr2:144169816..144198511hg19UCSC Ensembl
Innerchr2:143886286..143914981hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3828696
hg1928696
hg1828696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4086n100
Supporting Variantsnssv3582821
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002137
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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