A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2142



Internal ID15200019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76070185..76087802hg38UCSC Ensembl
Outerchr17:74066266..74083883hg19UCSC Ensembl
Outerchr17:71577861..71595478hg18UCSC Ensembl
Outerchr17:71577861..71595478hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg384630
hg194630
hg184630
hg174630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4289
SamplesNA12878
Known GenesEXOC7, GALR2, SRP68, ZACN
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)nsv2142
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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