A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4154



Internal ID15202149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204556130..204620074hg38UCSC Ensembl
Outerchr1:204525258..204589202hg19UCSC Ensembl
Outerchr1:202791881..202855825hg18UCSC Ensembl
Outerchr1:201256915..201320859hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384642
hg194642
hg184642
hg174642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3667, nssv4904
SamplesNA12878, NA19129
Known GenesLRRN2, MDM4
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)nsv4154
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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