A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071578



Internal ID19322151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16131377..16134378hg38UCSC Ensembl
chr2:16271499..16274500hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770264
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071578
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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