A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6197



Internal ID15537666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236709221..236738965hg38UCSC Ensembl
Outerchr1:236872521..236902265hg19UCSC Ensembl
Outerchr1:234939144..234968888hg18UCSC Ensembl
Outerchr1:233198562..233228306hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg387430
hg197430
hg187430
hg177430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4988
Supporting Variants
SamplesNA12156
Known GenesACTN2
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)nssv6197
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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