A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961807



Internal ID18876706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83892704..83892757hg38UCSC Ensembl
Outerchr1:84358387..84358440hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129131
Supporting Variants
SamplesKWS1
Known GenesMIR548AP, TTLL7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961807
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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