A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2128



Internal ID15200005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69134289..69168771hg38UCSC Ensembl
Outerchr17:67130430..67164912hg19UCSC Ensembl
Outerchr17:64642025..64676507hg18UCSC Ensembl
Outerchr17:64642025..64676507hg17UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg385255
hg195255
hg185255
hg175255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4286
SamplesNA12878
Known GenesABCA10, ABCA6
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)nsv2128
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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