A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118843



Internal ID19247800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1702828..1704828hg38UCSC Ensembl
Outerchr2:1706600..1708600hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1839n106
Supporting Variantsnssv3981158
SamplesKWS1
Known GenesPXDN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118843
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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