A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1975



Internal ID15546538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9608817..9642114hg38UCSC Ensembl
Outerchr17:9512134..9545431hg19UCSC Ensembl
Outerchr17:9452859..9486156hg18UCSC Ensembl
Outerchr17:9452859..9486156hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387690
hg197690
hg187690
hg177690
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1345
SamplesNA19240
Known GenesWDR16
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)nsv1975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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