A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114913



Internal ID18930363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6034072..6034123hg38UCSC Ensembl
Outerchr7:6073703..6073754hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975206
SamplesKWS2
Known GenesANKRD61, EIF2AK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114913
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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