A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178



Internal ID15202175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194364197..194396311hg38UCSC Ensembl
Outerchr3:194084926..194117040hg19UCSC Ensembl
Outerchr3:195566215..195598329hg18UCSC Ensembl
Outerchr3:195566223..195598337hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387386
hg197386
hg187386
hg177386
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10385
SamplesNA18956
Known GenesGP5, LRRC15
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)nsv4178
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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