A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019946



Internal ID18762481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72700394..72944358hg38UCSC Ensembl
Innerchr7:72165357..72414897hg19UCSC Ensembl
Innerchr7:71803293..72052833hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38243965
hg19249541
hg18249541
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6464n100
Supporting Variantsnssv3656472
Samples
Known GenesPOM121, SBDSP1, SPDYE7P, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019946
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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