A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043900



Internal ID19133119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22666351..23117127hg38UCSC Ensembl
Innerchr15:22755941..23206745hg19UCSC Ensembl
Innerchr15:20307305..20758186hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38450777
hg19450805
hg18450882
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n100
Supporting Variantsnssv3715541
Samples
Known GenesCYFIP1, LOC283683, NIPA1, NIPA2, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043900
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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