A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2319



Internal ID15200196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57638082..57658017hg38UCSC Ensembl
Outerchr18:55305314..55325249hg19UCSC Ensembl
Outerchr18:53456312..53476247hg18UCSC Ensembl
Outerchr18:53456312..53476247hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg386490
hg196490
hg186490
hg176490
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10160
SamplesNA18956
Known GenesATP8B1, LOC100505549
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)nsv2319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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