A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2770



Internal ID15195114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210646025..210676969hg38UCSC Ensembl
Outerchr1:210819369..210850311hg19UCSC Ensembl
Outerchr1:208885992..208916934hg18UCSC Ensembl
Outerchr1:207207764..207238706hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386170
hg196170
hg186170
hg176170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4387
Supporting Variants
SamplesNA18555
Known GenesHHAT
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)nssv2770
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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