A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967716



Internal ID19233586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124744031..124744931hg38UCSC Ensembl
Outerchr10:126432600..126433500hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131007
Supporting Variants
SamplesKWS2
Known GenesFAM53B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967716
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