A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4972



Internal ID15549735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:118029874..118074720hg38UCSC Ensembl
Outerchr5:117365569..117410415hg19UCSC Ensembl
Outerchr5:117393468..117438314hg18UCSC Ensembl
Outerchr5:117393468..117438314hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3844847
hg1944847
hg1844847
hg1744847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8140, nssv3383, nssv9674
SamplesNA18507, NA12156, NA12878
Known GenesLOC102467224
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv4972
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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