A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010055



Internal ID19099274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186198801..186247608hg38UCSC Ensembl
Innerchr1:186167933..186216740hg19UCSC Ensembl
Innerchr1:184434556..184483363hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3848808
hg1948808
hg1848808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv480n100
Supporting Variantsnssv3491781
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)nsv1010055
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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