A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047662



Internal ID18790193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:138111204..138124230hg38UCSC Ensembl
Innerchr9:141005656..141018682hg19UCSC Ensembl
Innerchr9:140125477..140138503hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3813027
hg1913027
hg1813027
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696525
Samples
Known GenesCACNA1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047662
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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