A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2102



Internal ID15546665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56195692..56227972hg38UCSC Ensembl
Outerchr17:54273053..54305333hg19UCSC Ensembl
Outerchr17:51628052..51660332hg18UCSC Ensembl
Outerchr17:51628052..51660332hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg387002
hg197002
hg187002
hg177002
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5663
SamplesNA19129
Known GenesANKFN1
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)nsv2102
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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