A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1938



Internal ID15546501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:297615..345010hg38UCSC Ensembl
Outerchr17:147406..194801hg19UCSC Ensembl
Outerchr17:147406..194801hg18UCSC Ensembl
Outerchr17:147406..194801hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811669
hg1911669
hg1811669
hg1711669
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5626, nssv1334, nssv6694, nssv2156, nssv4240, nssv5627
SamplesNA12156, NA12878, NA18555, NA19240, NA19129
Known GenesLOC100506388, RPH3AL
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)nsv1938
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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