A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2551



Internal ID15540569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152577849..152635314hg38UCSC Ensembl
Outerchr1:152550325..152607790hg19UCSC Ensembl
Outerchr1:150816949..150874414hg18UCSC Ensembl
Outerchr1:149363398..149420863hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3857466
hg1957466
hg1857466
hg1757466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2888
Supporting Variants
SamplesNA18555
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)nssv2551
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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