A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2577



Internal ID15547140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:117233283..117265841hg38UCSC Ensembl
Outerchr1:117775905..117808463hg19UCSC Ensembl
Outerchr1:117577428..117609986hg18UCSC Ensembl
Outerchr1:117487947..117520505hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg386689
hg196689
hg186689
hg176689
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5807
SamplesNA19129
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)nsv2577
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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