A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2038



Internal ID15199915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:35569617..35598796hg38UCSC Ensembl
Outerchr17:33896636..33925815hg19UCSC Ensembl
Outerchr17:30920749..30949928hg18UCSC Ensembl
Outerchr17:30920749..30949928hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387142
hg197142
hg187142
hg177142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5653
SamplesNA19129
Known GenesAP2B1, PEX12, SNORD7
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)nsv2038
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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