A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2305



Internal ID15546868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51392511..51426385hg38UCSC Ensembl
Outerchr18:48918881..48952755hg19UCSC Ensembl
Outerchr18:47172879..47206753hg18UCSC Ensembl
Outerchr18:47172879..47206753hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385563
hg195563
hg185563
hg175563
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7401
SamplesNA12156
Known GenesLOC100287225
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)nsv2305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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