A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114048



Internal ID19264666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8668383..8668467hg38UCSC Ensembl
Outerchr2:8808513..8808597hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991334, nssv3955494
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114048
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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