A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4465



Internal ID15202491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212665368..212699073hg38UCSC Ensembl
Outerchr1:212838710..212872415hg19UCSC Ensembl
Outerchr1:210905333..210939038hg18UCSC Ensembl
Outerchr1:209227105..209260810hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387294
hg197294
hg187294
hg177294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv499
SamplesNA19240
Known GenesBATF3
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)nsv4465
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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