A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134866



Internal ID18932611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60907771..60907843hg38UCSC Ensembl
Outerchr2:61134906..61134978hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972749
SamplesKWS2
Known GenesREL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134866
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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