A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693180



Internal ID15083146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:75364753..75867478hg38UCSC Ensembl
Innerchr1:75830438..76333163hg19UCSC Ensembl
Innerchr1:75603026..76105751hg18UCSC Ensembl
Innerchr1:75542459..76045184hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38502726
hg19502726
hg18502726
hg17502726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519329
Supporting Variants
Samples
Known GenesACADM, MSH4, RABGGTB, SLC44A5, SNORD45A, SNORD45B, SNORD45C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693180
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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