A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571819



Internal ID16012542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30147436..30204300hg38UCSC Ensembl
Innerchr16:30158757..30215621hg19UCSC Ensembl
Innerchr16:30066258..30123122hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3856865
hg1956865
hg1856865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv855491
Samples
Known GenesBOLA2, BOLA2B, CORO1A, LOC606724, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571819
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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