A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2317



Internal ID15200194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:56755011..56783204hg38UCSC Ensembl
Outerchr18:54422242..54450435hg19UCSC Ensembl
Outerchr18:52573240..52601433hg18UCSC Ensembl
Outerchr18:52573240..52601433hg17UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3811832
hg1911832
hg1811832
hg1711832
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2198
SamplesNA18555
Known GenesWDR7
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)nsv2317
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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