A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3615038



Internal ID18566633
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 StatusS
Merged Variantsnsv1009271
Supporting Variants
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)nssv3615038
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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