A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127958



Internal ID18923171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49127457..49127522hg38UCSC Ensembl
Outerchr3:49164890..49164955hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957356
SamplesKWS1
Known GenesLAMB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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