A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001722



Internal ID17294674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:257850..297449hg38UCSC Ensembl
Outerchr1:227601..267200hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3839600
hg1939600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953122
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001722
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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