A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049434



Internal ID19138653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133664644..133753192hg38UCSC Ensembl
Innerchr9:136529766..136618314hg19UCSC Ensembl
Innerchr9:135519587..135608135hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3888549
hg1988549
hg1888549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7721n100
Supporting Variantsnssv3696408
Samples
Known GenesSARDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049434
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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