A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128823



Internal ID19259906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237128457..237131757hg38UCSC Ensembl
Outerchr2:238037100..238040400hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2179n106
Supporting Variantsnssv3961491
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128823
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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