A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003532



Internal ID19192746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219456881..219456977hg38UCSC Ensembl
Outerchr2:220321603..220321699hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150236
Supporting Variants
SamplesKWB1
Known GenesSPEG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003532
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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