A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997277



Internal ID16943543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148234129..148258929hg38UCSC Ensembl
Outerchr1:147706401..147731200hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3824801
hg1924800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951836
Supporting Variants
SamplesBILGI_BIOE
Known GenesNBPF8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997277
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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