A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3476268



Internal ID18720255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:585989..1114424hg38UCSC Ensembl
Innerchr1:356431..1049804hg19UCSC Ensembl
Innerchr1:346294..1039667hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38528436
hg19693374
hg18693374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1008043
Supporting Variants
Samples
Known GenesAGRN, C1orf159, C1orf170, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, LOC100133331, LOC100288069, MIR6723, NOC2L, OR4F16, OR4F29, OR4F3, PLEKHN1, RNF223, SAMD11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3476268
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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