A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128907



Internal ID19265823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:99487038..99488638hg38UCSC Ensembl
Outerchr2:100103500..100105100hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1977n106
Supporting Variantsnssv3961577
SamplesKWS1
Known GenesREV1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128907
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