A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516290



Internal ID15096897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181636029..181642905hg38UCSC Ensembl
Innerchr1:181605165..181612041hg19UCSC Ensembl
Innerchr1:179871788..179878664hg18UCSC Ensembl
Innerchr1:178336822..178343698hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386877
hg196877
hg186877
hg176877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667373, nssv685471
Samples
Known GenesCACNA1E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516290
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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