A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009271



Internal ID18751802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187246858..187480081hg38UCSC Ensembl
Innerchr3:186964646..187197869hg19UCSC Ensembl
Innerchr3:188447340..188680563hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38233224
hg19233224
hg18233224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3615038
Samples
Known GenesMASP1, RTP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009271
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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