A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118624



Internal ID18936620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2307028..2310628hg38UCSC Ensembl
Outerchr2:2310800..2314400hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959138
SamplesKWS1
Known GenesMYT1L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118624
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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