A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126564



Internal ID19249028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130470127..130471527hg38UCSC Ensembl
Outerchr2:131227700..131229100hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2034n106
Supporting Variantsnssv3984820
SamplesKWS1
Known GenesPOTEI
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126564
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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