A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126548



Internal ID18927849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46698961..46699461hg38UCSC Ensembl
Outerchr2:46926100..46926600hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984802
SamplesKWS1
Known GenesSOCS5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126548
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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