A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1552



Internal ID15545525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152580656..152647968hg38UCSC Ensembl
Outerchr1:152553132..152620444hg19UCSC Ensembl
Outerchr1:150819756..150887068hg18UCSC Ensembl
Outerchr1:149366205..149433517hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3867313
hg1967313
hg1867313
hg1767313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2888
Supporting Variants
SamplesNA19240
Known GenesLCE3A, LCE3B, LCE3C
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)nssv1552
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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