A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143607



Internal ID18908525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22847291..22847891hg38UCSC Ensembl
Outerchr14:23316500..23317100hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981290
SamplesKWS1
Known GenesMMP14
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143607
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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