A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10514



Internal ID15542284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111335758..111368265hg38UCSC Ensembl
Outerchr6:111656961..111689468hg19UCSC Ensembl
Outerchr6:111763654..111796161hg18UCSC Ensembl
Outerchr6:111763654..111796161hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg386999
hg196999
hg186999
hg176999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442
Supporting Variants
SamplesNA18956
Known GenesREV3L
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)nssv10514
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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