A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048885



Internal ID19138104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:109295986..109338294hg38UCSC Ensembl
Innerchr9:112058266..112100574hg19UCSC Ensembl
Innerchr9:111098087..111140395hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3842309
hg1942309
hg1842309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7699n100
Supporting Variantsnssv3697654
Samples
Known GenesEPB41L4B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048885
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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