A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3973602



Internal ID19236920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:100985121..100985199hg38UCSC Ensembl
Outerchr2:101601583..101601661hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1114120
Supporting Variants
SamplesKWS2
Known GenesNPAS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3973602
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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