A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032530



Internal ID19121752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144172363..144336746hg38UCSC Ensembl
Innerchr7:143869456..144033839hg19UCSC Ensembl
Innerchr7:143500389..143664772hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38164384
hg19164384
hg18164384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6726n100
Supporting Variantsnssv3754833
Samples
Known GenesARHGEF34P, ARHGEF35, CTAGE4, CTAGE8, OR2A1, OR2A20P, OR2A42, OR2A7, OR2A9P, RNU6-57P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032530
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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