A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136474



Internal ID19270079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222616971..222617260hg38UCSC Ensembl
Outerchr2:223481690..223481979hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2155n106
Supporting Variantsnssv3972863, nssv3989893
SamplesKWS2, KWS1
Known GenesFARSB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136474
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