A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4623



Internal ID15549351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:181843602..181865116hg38UCSC Ensembl
Outerchr4:182764755..182786269hg19UCSC Ensembl
Outerchr4:183001749..183023263hg18UCSC Ensembl
Outerchr4:183139904..183161418hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg386226
hg196226
hg186226
hg176226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8036
SamplesNA12156
Known Genes
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)nsv4623
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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