A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1521



Internal ID8513066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7954179..7987433hg38UCSC Ensembl
Outerchr1:8014239..8047493hg19UCSC Ensembl
Outerchr1:7936826..7970080hg18UCSC Ensembl
Outerchr1:7948505..7981759hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg386773
hg196773
hg186773
hg176773
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2406
SamplesNA18555
Known GenesPARK7
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)nsv1521
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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