A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972467



Internal ID18884828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1601835..1601894hg38UCSC Ensembl
Outerchr17:1505129..1505188hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134585
Supporting Variants
SamplesKWS2
Known GenesSLC43A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972467
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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