A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115975



Internal ID19286888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88310091..88310162hg38UCSC Ensembl
Outerchr14:88776435..88776506hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978537
SamplesKWS2
Known GenesKCNK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115975
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer