A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029832



Internal ID19119051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105264610..105472042hg38UCSC Ensembl
Innerchr7:104905057..105112489hg19UCSC Ensembl
Innerchr7:104692293..104899725hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38207433
hg19207433
hg18207433
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656209
Samples
Known GenesPUS7, SRPK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029832
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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