A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023169



Internal ID19112386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144176284..144377836hg38UCSC Ensembl
Innerchr7:143873377..144074929hg19UCSC Ensembl
Innerchr7:143504310..143705862hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38201553
hg19201553
hg18201553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6726n100
Supporting Variantsnssv3671169
Samples
Known GenesARHGEF34P, ARHGEF35, 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)nsv1023169
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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