A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071638



Internal ID19326338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173738234..173738423hg38UCSC Ensembl
chr2:174602962..174603151hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768587
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071638
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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