A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018563



Internal ID19107780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:2233301..2325297hg38UCSC Ensembl
Innerchr7:2272936..2364932hg19UCSC Ensembl
Innerchr7:2239462..2331458hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg3891997
hg1991997
hg1891997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654227
Samples
Known GenesFTSJ2, MIR6836, NUDT1, SNX8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018563
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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