A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977076



Internal ID19229418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120001677..120014977hg38UCSC Ensembl
Outerchr1:120544300..120557600hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3813301
hg1913301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139488
Supporting Variants
SamplesKWS2
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977076
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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