A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv838334



Internal ID15785604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22822203..23122763hg38UCSC Ensembl
Innerchr15:22750305..23050865hg19UCSC Ensembl
Innerchr15:20301669..20602306hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38300561
hg19300561
hg18300638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv568222
Supporting Variants
Samples
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv838334
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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