A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114122



Internal ID18910565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105779198..105779264hg38UCSC Ensembl
Outerchr2:106395655..106395721hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973603
SamplesKWS2
Known GenesNCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114122
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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