A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465204



Internal ID15525269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149761039..149787971hg38UCSC Ensembl
Innerchr7:149458128..149485059hg19UCSC Ensembl
Innerchr7:149089061..149115992hg18UCSC Ensembl
Innerchr7:148895776..148922707hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3826933
hg1926932
hg1826932
hg1726932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844n27
Supporting Variantsnssv541049
Samples1782681313_A
Known GenesSSPO, ZNF467
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv465204
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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