A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136473



Internal ID19265067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219456893..219456961hg38UCSC Ensembl
Outerchr2:220321615..220321683hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985979, nssv3972861
SamplesKWS2, KWS1
Known GenesSPEG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136473
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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