A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10497



Internal ID15542301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47196475..47228455hg38UCSC Ensembl
Outerchr6:47164211..47196191hg19UCSC Ensembl
Outerchr6:47272170..47304150hg18UCSC Ensembl
Outerchr6:47272170..47304150hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg387514
hg197514
hg187514
hg177514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5289
Supporting Variants
SamplesNA18956
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)nssv10497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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