A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757



Internal ID15195128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44735828..44751227hg38UCSC Ensembl
Outerchr7:44775427..44790826hg19UCSC Ensembl
Outerchr7:44741952..44757351hg18UCSC Ensembl
Outerchr7:44548667..44564066hg17UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg386805
hg196805
hg186805
hg176805
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722
Supporting Variants
SamplesNA18555
Known GenesZMIZ2
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)nssv2757
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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