A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004682



Internal ID19093899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:143050025..143085312hg38UCSC Ensembl
Innerchr3:142768867..142804154hg19UCSC Ensembl
Innerchr3:144251557..144286844hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3835288
hg1935288
hg1835288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4913n100
Supporting Variantsnssv3741486, nssv3606125
Samples
Known GenesU2SURP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004682
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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