A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050262



Internal ID19139481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22646628..23121986hg38UCSC Ensembl
Innerchr15:22751082..23226468hg19UCSC Ensembl
Innerchr15:20302446..20777909hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38475359
hg19475387
hg18475464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2406n100
Supporting Variantsnssv3538860
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)nsv1050262
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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