A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv601



Internal ID15545273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166067131..166113770hg38UCSC Ensembl
Outerchr6:166480619..166527258hg19UCSC Ensembl
Outerchr6:166400609..166447248hg18UCSC Ensembl
Outerchr6:166451030..166497669hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3846640
hg1946640
hg1846640
hg1746640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5590
Supporting Variants
SamplesNA19240
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)nssv601
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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