A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994926



Internal ID18859283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114086245..114087545hg38UCSC Ensembl
Outerchr7:113726300..113727600hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144197
Supporting Variants
SamplesKWS1
Known GenesFOXP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994926
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