A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019212



Internal ID19108430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:33430254..33446153hg38UCSC Ensembl
Innerchr6:33398031..33413930hg19UCSC Ensembl
Innerchr6:33506009..33521908hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3815900
hg1915900
hg1815900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657342
Samples
Known GenesMIR5004, SYNGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019212
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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