A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056249



Internal ID18798780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29410374..29627320hg38UCSC Ensembl
Innerchr16:29421695..29638641hg19UCSC Ensembl
Innerchr16:29329196..29546142hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38216947
hg19216947
hg18216947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3716183
Samples
Known GenesBOLA2, BOLA2B, LOC388242, LOC440354, LOC606724, LOC613038, SLC7A5P1, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056249
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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