A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998012



Internal ID19157549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186220873..186247608hg38UCSC Ensembl
Innerchr1:186190005..186216740hg19UCSC Ensembl
Innerchr1:184456628..184483363hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3826736
hg1926736
hg1826736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv482n100
Supporting Variantsnssv3495844, nssv3498923
Samples
Known GenesMIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998012
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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