A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123649



Internal ID18907545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49579775..49579826hg38UCSC Ensembl
Outerchr3:49617208..49617259hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973115, nssv3986206
SamplesKWS2, KWS1
Known GenesBSN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123649
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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