A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121



Internal ID15202113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202966708..203004945hg38UCSC Ensembl
Outerchr1:202935836..202974073hg19UCSC Ensembl
Outerchr1:201202459..201240696hg18UCSC Ensembl
Outerchr1:199667493..199705730hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3838238
hg1938238
hg1838238
hg1738238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7971
SamplesNA12156
Known GenesCYB5R1, LOC401980
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)nsv4121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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