A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7701



Internal ID15552737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30966011..30996077hg38UCSC Ensembl
Outerchr1:31438858..31468924hg19UCSC Ensembl
Outerchr1:31211445..31241511hg18UCSC Ensembl
Outerchr1:31107951..31138017hg17UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg388408
hg198408
hg188408
hg178408
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10787
SamplesNA18956
Known GenesPUM1, SNORD85
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)nsv7701
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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