A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049876



Internal ID18792407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22619128..23121986hg38UCSC Ensembl
Innerchr15:22751082..23253968hg19UCSC Ensembl
Innerchr15:20302446..20805409hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38502859
hg19502887
hg18502964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2409n100
Supporting Variantsnssv3715533
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)nsv1049876
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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