A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023315



Internal ID19112532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:144172363..144369842hg38UCSC Ensembl
Innerchr7:143869456..144066935hg19UCSC Ensembl
Innerchr7:143500389..143697868hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38197480
hg19197480
hg18197480
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6728n100
Supporting Variantsnssv3671159, nssv3671160
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)nsv1023315
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer