A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948



Internal ID15198436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:73860707..73894411hg38UCSC Ensembl
Outerchr10:75620465..75654169hg19UCSC Ensembl
Outerchr10:75290471..75324175hg18UCSC Ensembl
Outerchr10:75290471..75324175hg17UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg387276
hg197276
hg187276
hg177276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7154
Supporting Variants
SamplesNA19240
Known GenesCAMK2G
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)nssv948
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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