A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5754



Internal ID15196973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50336652..50368507hg38UCSC Ensembl
Outerchr19:50839909..50871764hg19UCSC Ensembl
Outerchr19:55531721..55563576hg18UCSC Ensembl
Outerchr19:55531721..55563576hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387429
hg197429
hg187429
hg177429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2529
Supporting Variants
SamplesNA19129
Known GenesNAPSA, NAPSB
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)nssv5754
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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