A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019164



Internal ID18761698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152070390..152241139hg38UCSC Ensembl
Innerchr7:151767475..151938224hg19UCSC Ensembl
Innerchr7:151398408..151569157hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38170750
hg19170750
hg18170750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6758n100
Supporting Variantsnssv3674269
Samples
Known GenesGALNT11, KMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019164
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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