A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136293



Internal ID18913892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8678470..8679170hg38UCSC Ensembl
Outerchr2:8818600..8819300hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1860n106
Supporting Variantsnssv3989910
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136293
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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