A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112926



Internal ID18919419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44226601..44227901hg38UCSC Ensembl
Outerchr7:44266200..44267500hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994897, nssv3969217
SamplesKWS2, KWS1
Known GenesCAMK2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112926
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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