A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607430



Internal ID16394839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70193174..70237061hg38UCSC Ensembl
Innerchr7:69658160..69702047hg19UCSC Ensembl
Innerchr7:69296096..69339983hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3843888
hg1943888
hg1843888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1085705
Samples
Known GenesAUTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607430
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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