A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969178



Internal ID18895040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:138352611..138353011hg38UCSC Ensembl
Outerchr5:137688300..137688700hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133614
Supporting Variants
SamplesKWS2
Known GenesKDM3B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969178
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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