A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984403



Internal ID18862748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6612940..6615440hg38UCSC Ensembl
Outerchr1:6673000..6675500hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126174
Supporting Variants
SamplesKWS1
Known GenesPHF13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984403
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