A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149100



Internal ID19200175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88310105..88310166hg38UCSC Ensembl
Outerchr14:88776449..88776510hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002614
SamplesKWB1
Known GenesKCNK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149100
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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