A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043479



Internal ID19132698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:70880520..70947800hg38UCSC Ensembl
Innerchr11:70726625..70793905hg19UCSC Ensembl
Innerchr11:70404273..70471553hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3867281
hg1967281
hg1867281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3509992
Samples
Known GenesSHANK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043479
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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