A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2750



Internal ID15195136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1075693..1110299hg38UCSC Ensembl
Outerchr7:1115329..1149935hg19UCSC Ensembl
Outerchr7:1081855..1116461hg18UCSC Ensembl
Outerchr7:888570..923176hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385423
hg195423
hg185423
hg175423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5612
Supporting Variants
SamplesNA18555
Known GenesC7orf50, GPER1
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)nssv2750
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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