A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976625



Internal ID19232775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120015277..120116815hg38UCSC Ensembl
Outerchr1:120557900..120659400hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38101539
hg19101501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124571
Supporting Variants
SamplesKWS2
Known GenesNOTCH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976625
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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