A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10160



Internal ID15195952
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 StatusS
Merged Variantsnsv2319
Supporting Variants
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)nssv10160
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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