A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3383



Internal ID15538111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:118048439..118060223hg38UCSC Ensembl
Outerchr5:117384134..117395918hg19UCSC Ensembl
Outerchr5:117412033..117423817hg18UCSC Ensembl
Outerchr5:117412033..117423817hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3811785
hg1911785
hg1811785
hg1711785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4972
Supporting Variants
SamplesNA12878
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)nssv3383
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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