A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140831



Internal ID19257192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102848257..102848596hg38UCSC Ensembl
Outerchr7:102488704..102489043hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986746, nssv3992335
SamplesKWS2, KWS1
Known GenesFBXL13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140831
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