A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6751



Internal ID15190427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:32160231..32192685hg38UCSC Ensembl
Outerchr18:29740194..29772648hg19UCSC Ensembl
Outerchr18:27994192..28026646hg18UCSC Ensembl
Outerchr18:27994192..28026646hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386981
hg196981
hg186981
hg176981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2249
Supporting Variants
SamplesNA12156
Known GenesMEP1B
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)nssv6751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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