A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980339



Internal ID19212541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54405727..54407327hg38UCSC Ensembl
Outerchr1:54871400..54873000hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381601
hg191601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118119
Supporting Variants
SamplesKWS1
Known GenesSSBP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980339
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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