A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2029



Internal ID15546592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34408915..34442038hg38UCSC Ensembl
Outerchr17:32735934..32769057hg19UCSC Ensembl
Outerchr17:29760047..29793170hg18UCSC Ensembl
Outerchr17:29760047..29793170hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386314
hg196314
hg186314
hg176314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7323
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)nsv2029
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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