A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980957



Internal ID18874607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70808383..70809783hg38UCSC Ensembl
Outerchr14:71275100..71276500hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118281
Supporting Variants
SamplesKWS1
Known GenesMAP3K9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980957
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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