A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2004



Internal ID15546567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:20365561..20397564hg38UCSC Ensembl
Outerchr17:20268874..20300877hg19UCSC Ensembl
Outerchr17:20209466..20241469hg18UCSC Ensembl
Outerchr17:20209466..20241469hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387431
hg197431
hg187431
hg177431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6707
SamplesNA12156
Known GenesCCDC144CP
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)nsv2004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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