A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009257



Internal ID19098475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:37972505..38116865hg38UCSC Ensembl
Innerchr4:37974126..38118486hg19UCSC Ensembl
Innerchr4:37650521..37794881hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38144361
hg19144361
hg18144361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3625029
Samples
Known GenesTBC1D1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009257
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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