A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114065



Internal ID18937845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32673800..32673865hg38UCSC Ensembl
Outerchr2:32898867..32898932hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973550
SamplesKWS2
Known GenesTTC27
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114065
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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