A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2056



Internal ID15199933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41923301..41975161hg38UCSC Ensembl
Outerchr17:40079554..40127179hg19UCSC Ensembl
Outerchr17:37333080..37380705hg18UCSC Ensembl
Outerchr17:37333080..37380705hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386881
hg196881
hg186881
hg176881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9326, nssv2967, nssv4267, nssv6720, nssv5657, nssv1369
SamplesNA12156, NA12878, NA18555, NA18517, NA19240, NA19129
Known GenesCNP, TTC25
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)nsv2056
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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