A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5002



Internal ID15544019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91573415..91598383hg38UCSC Ensembl
Outerchr7:91202730..91227698hg19UCSC Ensembl
Outerchr7:91040666..91065634hg18UCSC Ensembl
Outerchr7:90847381..90872349hg17UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg3824969
hg1924969
hg1824969
hg1724969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5835
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5002
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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