A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3979



Internal ID15201956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123854567..123898685hg38UCSC Ensembl
Outerchr3:123573414..123617532hg19UCSC Ensembl
Outerchr3:125056104..125100222hg18UCSC Ensembl
Outerchr3:125056104..125100222hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg386013
hg196013
hg186013
hg176013
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3193, nssv7859, nssv5981, nssv2410
SamplesNA12156, NA12878, NA18555, NA19129
Known GenesMYLK
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)nsv3979
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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