A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969161



Internal ID19228145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17217191..17218391hg38UCSC Ensembl
Outerchr5:17217300..17218500hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133596
Supporting Variants
SamplesKWS2
Known GenesBASP1, LOC285696
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969161
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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