A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464431



Internal ID15177810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38233704..38322024hg38UCSC Ensembl
Innerchr7:38273305..38361625hg19UCSC Ensembl
Innerchr7:38239830..38328150hg18UCSC Ensembl
Innerchr7:38046545..38134865hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3888321
hg1988321
hg1888321
hg1788321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540349
SamplesNINDS_119
Known GenesTARP
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)nsv464431
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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