A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2749



Internal ID15195137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206043699..206056049hg38UCSC Ensembl
Outerchr1:206285322..206297669hg19UCSC Ensembl
Outerchr1:204451945..204464292hg18UCSC Ensembl
Outerchr1:202828389..202840736hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386243
hg196243
hg186243
hg176243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199
Supporting Variants
SamplesNA18555
Known GenesC1orf186
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)nssv2749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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