A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994443



Internal ID19217420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50830782..50831282hg38UCSC Ensembl
Outerchr14:51297500..51298000hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143749
Supporting Variants
SamplesKWS1
Known GenesNIN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994443
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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