A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3921



Internal ID15548579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:189699275..189841508hg38UCSC Ensembl
Outerchr1:189668405..189810638hg19UCSC Ensembl
Outerchr1:187935028..188077261hg18UCSC Ensembl
Outerchr1:186400062..186542295hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38142234
hg19142234
hg18142234
hg17142234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600, nssv7919
SamplesNA12156, NA12878
Known Genes
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)nsv3921
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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