A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5985



Internal ID15543379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152573166..152627259hg38UCSC Ensembl
Outerchr1:152545642..152599735hg19UCSC Ensembl
Outerchr1:150812266..150866359hg18UCSC Ensembl
Outerchr1:149358715..149412808hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3854094
hg1954094
hg1854094
hg1754094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2888
Supporting Variants
SamplesNA19129
Known GenesLCE3A, LCE3B, LCE3C, LCE3D
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)nssv5985
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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