A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2749



Internal ID15200626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:60888545..60921008hg38UCSC Ensembl
Outerchr2:61115680..61148143hg19UCSC Ensembl
Outerchr2:60969184..61001647hg18UCSC Ensembl
Outerchr2:61027331..61059794hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg386952
hg196952
hg186952
hg176952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6842
SamplesNA12156
Known GenesREL
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)nsv2749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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