A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012840



Internal ID19102057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:186203711..186247608hg38UCSC Ensembl
Innerchr1:186172843..186216740hg19UCSC Ensembl
Innerchr1:184439466..184483363hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3843898
hg1943898
hg1843898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv480n100
Supporting Variantsnssv3491523, nssv3485520
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)nsv1012840
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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