A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025281



Internal ID18767813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152089940..152305071hg38UCSC Ensembl
Innerchr7:151787025..152002156hg19UCSC Ensembl
Innerchr7:151417958..151633089hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38215132
hg19215132
hg18215132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6758n100
Supporting Variantsnssv3674270
Samples
Known GenesGALNT11, KMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025281
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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