A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018124



Internal ID19107341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101320582..101494033hg38UCSC Ensembl
Innerchr7:100963863..101137314hg19UCSC Ensembl
Innerchr7:100750583..100924034hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38173452
hg19173452
hg18173452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6537n100
Supporting Variantsnssv3655305
Samples
Known GenesCOL26A1, RABL5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018124
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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