A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4748



Internal ID15196540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160033106..160064505hg38UCSC Ensembl
Outerchr1:160002896..160034295hg19UCSC Ensembl
Outerchr1:158269520..158300919hg18UCSC Ensembl
Outerchr1:156815969..156847368hg17UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg387865
hg197865
hg187865
hg177865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199
Supporting Variants
SamplesNA19129
Known GenesKCNJ10
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)nssv4748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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