A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997209



Internal ID17290161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119989678..120093999hg38UCSC Ensembl
Outerchr1:120532301..120636600hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38104322
hg19104300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951405
Supporting Variants
SamplesBILGI_BIOE
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997209
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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