A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2146



Internal ID15546709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77042523..77074088hg38UCSC Ensembl
Outerchr17:75038605..75070170hg19UCSC Ensembl
Outerchr17:72550200..72581765hg18UCSC Ensembl
Outerchr17:72550200..72581765hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg387722
hg197722
hg187722
hg177722
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5676
SamplesNA19129
Known Genes
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)nsv2146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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