A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016943



Internal ID18759478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146534030..146557568hg38UCSC Ensembl
Innerchr7:146231122..146254660hg19UCSC Ensembl
Innerchr7:145862055..145885593hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3823539
hg1923539
hg1823539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3674215
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016943
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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