A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991721



Internal ID18886406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:16317771..16317834hg38UCSC Ensembl
Outerchr3:16359278..16359341hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139097
Supporting Variants
SamplesKWS2
Known GenesRFTN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991721
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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