A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2172



Internal ID15194769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35124777..35143140hg38UCSC Ensembl
Outerchr17:33451796..33470159hg19UCSC Ensembl
Outerchr17:30475909..30494272hg18UCSC Ensembl
Outerchr17:30475909..30494272hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387842
hg197842
hg187842
hg177842
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2036
Supporting Variants
SamplesNA18555
Known GenesFNDC8, NLE1
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)nssv2172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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