A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3958969



Internal ID19224984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186139868..186142768hg38UCSC Ensembl
Outerchr1:186109000..186111900hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg382901
hg192901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118461
Supporting Variants
SamplesKWS1
Known GenesHMCN1, MIR548F1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3958969
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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