A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969165



Internal ID19240960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69566473..69585473hg38UCSC Ensembl
Outerchr5:68862300..68881300hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3819001
hg1919001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133602
Supporting Variants
SamplesKWS2
Known GenesGTF2H2C, GTF2H2D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969165
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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