A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762676



Internal ID19311827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237128856..237131557hg38UCSC Ensembl
chr2:238037499..238040200hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077901
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762676
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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