A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001733



Internal ID19090950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111270033..111430144hg38UCSC Ensembl
Innerchr2:112027610..112187721hg19UCSC Ensembl
Innerchr2:111744081..111904192hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38160112
hg19160112
hg18160112
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580221, nssv3580222
Samples
Known GenesMIR4435-1, MIR4435-1HG, MIR4435-2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001733
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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