A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2977



Internal ID15200854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154908577..154935137hg38UCSC Ensembl
Outerchr1:154881053..154907613hg19UCSC Ensembl
Outerchr1:153147677..153174237hg18UCSC Ensembl
Outerchr1:151694126..151720686hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3826561
hg1926561
hg1826561
hg1726561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7688
SamplesNA12156
Known GenesPMVK
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)nsv2977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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