A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050348



Internal ID18792879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22646628..23117127hg38UCSC Ensembl
Innerchr15:22755941..23226468hg19UCSC Ensembl
Innerchr15:20307305..20777909hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38470500
hg19470528
hg18470605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2409n100
Supporting Variantsnssv3538873
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)nsv1050348
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer