A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199



Internal ID15202198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206043699..206058843hg38UCSC Ensembl
Outerchr1:206282528..206297669hg19UCSC Ensembl
Outerchr1:204449151..204464292hg18UCSC Ensembl
Outerchr1:202825595..202840736hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg388473
hg198473
hg188473
hg178473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2749, nssv3677, nssv6088
SamplesNA12156, NA12878, NA18555
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)nsv4199
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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