A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998007



Internal ID18810857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:245721457..245826060hg38UCSC Ensembl
Innerchr1:245884759..245989362hg19UCSC Ensembl
Innerchr1:243951382..244055985hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38104604
hg19104604
hg18104604
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705564
Samples
Known GenesSMYD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998007
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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