A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960013



Internal ID19219206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237211557..237213257hg38UCSC Ensembl
Outerchr2:238120200..238121900hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110363
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960013
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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