A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4940



Internal ID15196199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:209903517..209923065hg38UCSC Ensembl
Outerchr1:210076862..210096410hg19UCSC Ensembl
Outerchr1:208143485..208163033hg18UCSC Ensembl
Outerchr1:206465257..206484805hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3819549
hg1919549
hg1819549
hg1719549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4354
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)nssv4940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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