A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540349



Internal ID15164921
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464431
Supporting Variants
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)nssv540349
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer