A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061256



Internal ID18803787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88711587..89013365hg38UCSC Ensembl
Innerchr16:88777995..89079773hg19UCSC Ensembl
Innerchr16:87305496..87607274hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38301779
hg19301779
hg18301779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559998
Samples
Known GenesAPRT, CBFA2T3, CDT1, CTU2, GALNS, LOC100289580, MIR4722, PABPN1L, PIEZO1, TRAPPC2L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061256
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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