A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004990



Internal ID19094207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:159373185..159457165hg38UCSC Ensembl
Innerchr3:159090974..159174954hg19UCSC Ensembl
Innerchr3:160573668..160657648hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3883981
hg1983981
hg1883981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3606404
Samples
Known GenesIQCJ-SCHIP1, SCHIP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004990
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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