A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465247



Internal ID15525312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:156063427..156091774hg38UCSC Ensembl
Innerchr7:155856121..155884468hg19UCSC Ensembl
Innerchr7:155548882..155577229hg18UCSC Ensembl
Innerchr7:155355597..155383944hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3828348
hg1928348
hg1828348
hg1728348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541083
SamplesHGDP00684
Known Genes
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)nsv465247
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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