A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112645



Internal ID18923481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:24398594..24399094hg38UCSC Ensembl
Outerchr14:24867800..24868300hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967127
SamplesKWS2
Known GenesNYNRIN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112645
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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