A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041246



Internal ID18783777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:132227287..132298851hg38UCSC Ensembl
Innerchr9:135102674..135174238hg19UCSC Ensembl
Innerchr9:134092495..134164059hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg3871565
hg1971565
hg1871565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696401
Samples
Known GenesNTNG2, SETX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041246
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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