A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6231



Internal ID15537632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246807196..246821441hg38UCSC Ensembl
Outerchr1:246970498..246984743hg19UCSC Ensembl
Outerchr1:245037121..245051366hg18UCSC Ensembl
Outerchr1:243296539..243310784hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg388712
hg198712
hg188712
hg178712
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5265
Supporting Variants
SamplesNA12156
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)nssv6231
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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