A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6133



Internal ID15191045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:210629554..210662093hg38UCSC Ensembl
Outerchr1:210802898..210835441hg19UCSC Ensembl
Outerchr1:208869521..208902064hg18UCSC Ensembl
Outerchr1:207191293..207223836hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386894
hg196894
hg186894
hg176894
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4387
Supporting Variants
SamplesNA12156
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)nssv6133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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