A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019947



Internal ID19109165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144212130..144392374hg38UCSC Ensembl
Innerchr7:143909223..144089467hg19UCSC Ensembl
Innerchr7:143540156..143720400hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38180245
hg19180245
hg18180245
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6735n100
Supporting Variantsnssv3672587
Samples
Known GenesARHGEF34P, ARHGEF5, 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)nsv1019947
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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