A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944



Internal ID15204118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128024907..128058792hg38UCSC Ensembl
Outerchr7:127664960..127698844hg19UCSC Ensembl
Outerchr7:127452196..127486080hg18UCSC Ensembl
Outerchr7:127258911..127292795hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg385548
hg195548
hg185548
hg175548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8423
SamplesNA12156
Known GenesLRRC4, SND1
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)nsv5944
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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