A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136294



Internal ID19271121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10429074..10429874hg38UCSC Ensembl
Outerchr2:10569200..10570000hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994638, nssv3969023
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136294
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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