A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2385



Internal ID15200262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:858907..894070hg38UCSC Ensembl
Outerchr19:858907..894070hg19UCSC Ensembl
Outerchr19:809907..845070hg18UCSC Ensembl
Outerchr19:809907..845070hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385836
hg195836
hg185836
hg175836
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5717, nssv7422, nssv1429, nssv2204, nssv4337
SamplesNA19129, NA12156, NA12878, NA19240, NA18555
Known GenesCFD, MED16
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)nsv2385
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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