A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028566



Internal ID18771097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72701922..72988046hg38UCSC Ensembl
Innerchr7:72166885..72458575hg19UCSC Ensembl
Innerchr7:71804821..72096511hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38286125
hg19291691
hg18291691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6464n100
Supporting Variantsnssv3656474
Samples
Known GenesLOC100101148, LOC541473, NSUN5P2, POM121, SBDSP1, SPDYE7P, TRIM73, TRIM74, TYW1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028566
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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