A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540502



Internal ID15162492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:81748600..81781600hg38UCSC Ensembl
Innerchr7:81377916..81410916hg19UCSC Ensembl
Innerchr7:81215852..81248852hg18UCSC Ensembl
Innerchr7:81022567..81055567hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3833001
hg1933001
hg1833001
hg1733001
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464609
Supporting Variants
SamplesHGDP00952
Known GenesHGF
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)nssv540502
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