A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3473



Internal ID15538201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139917830..139950852hg38UCSC Ensembl
Outerchr6:140238967..140271989hg19UCSC Ensembl
Outerchr6:140280660..140313682hg18UCSC Ensembl
Outerchr6:140280660..140313682hg17UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg386728
hg196728
hg186728
hg176728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502
Supporting Variants
SamplesNA12878
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)nssv3473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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