A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040410



Internal ID19129629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22646628..23120560hg38UCSC Ensembl
Innerchr15:22752508..23226468hg19UCSC Ensembl
Innerchr15:20303872..20777909hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38473933
hg19473961
hg18474038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n100
Supporting Variantsnssv3538871
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)nsv1040410
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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