A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607481



Internal ID16048204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74194826..74282997hg38UCSC Ensembl
Innerchr7:73609156..73697327hg19UCSC Ensembl
Innerchr7:73247092..73335263hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3888172
hg1988172
hg1888172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1086695
Samples
Known GenesEIF4H, LAT2, RFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607481
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