A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4988



Internal ID15203066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236699164..236760383hg38UCSC Ensembl
Outerchr1:236862464..236923683hg19UCSC Ensembl
Outerchr1:234929087..234990306hg18UCSC Ensembl
Outerchr1:233188505..233249724hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg387430
hg197430
hg187430
hg177430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3843, nssv5036, nssv2788, nssv10547, nssv6197
SamplesNA18956, NA19129, NA12156, NA12878, NA18555
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)nsv4988
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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