A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024517



Internal ID18767049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152123736..152424864hg38UCSC Ensembl
Innerchr7:151820821..152121949hg19UCSC Ensembl
Innerchr7:151451754..151752882hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38301129
hg19301129
hg18301129
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674273
Samples
Known GenesKMT2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024517
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