A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680



Internal ID15198600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:118193193..118226682hg38UCSC Ensembl
Outerchr7:117833247..117866736hg19UCSC Ensembl
Outerchr7:117620483..117653972hg18UCSC Ensembl
Outerchr7:117427198..117460687hg17UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg387491
hg197491
hg187491
hg177491
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920
Supporting Variants
SamplesNA19240
Known GenesANKRD7, NAA38
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)nssv680
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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