A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2100



Internal ID15199977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55415019..56251155hg38UCSC Ensembl
Outerchr17:53492380..54328516hg19UCSC Ensembl
Outerchr17:50847379..51683515hg18UCSC Ensembl
Outerchr17:50847379..51683515hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38836137
hg19836137
hg18836137
hg17836137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10128
SamplesNA18956
Known GenesANKFN1, MMD, PCTP, TMEM100
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)nsv2100
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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