A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997247



Internal ID17290199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:145195395..145207109hg38UCSC Ensembl
Outerchr1:144320301..144332000hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811715
hg1911700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950878
Supporting Variants
SamplesBILGI_BIOE
Known GenesLINC00623, LOC100288142, LOC728875
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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