A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3032



Internal ID15200915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155285619..155318185hg38UCSC Ensembl
Outerchr1:155255410..155287976hg19UCSC Ensembl
Outerchr1:153522034..153554600hg18UCSC Ensembl
Outerchr1:152068483..152101049hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg387457
hg197457
hg187457
hg177457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2561
SamplesNA18555
Known GenesFDPS, HCN3, PKLR
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)nsv3032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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