A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954574



Internal ID18857833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59879191..59879250hg38UCSC Ensembl
Outerchr17:57956552..57956611hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116228
Supporting Variants
SamplesKWS1
Known GenesTUBD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954574
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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