A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2719



Internal ID15195170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:10515337..10549754hg38UCSC Ensembl
Outerchr6:10515570..10549987hg19UCSC Ensembl
Outerchr6:10623556..10657973hg18UCSC Ensembl
Outerchr6:10623556..10657973hg17UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg385606
hg195606
hg185606
hg175606
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5195
Supporting Variants
SamplesNA18555
Known GenesGCNT2
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)nssv2719
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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