A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114173



Internal ID18939631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221478767..221478819hg38UCSC Ensembl
Outerchr2:222343487..222343539hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973663
SamplesKWS2
Known GenesEPHA4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114173
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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