A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540317



Internal ID15162648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:16341741..16361565hg38UCSC Ensembl
Innerchr7:16381366..16401190hg19UCSC Ensembl
Innerchr7:16347891..16367715hg18UCSC Ensembl
Innerchr7:16154606..16174430hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3819825
hg1919825
hg1819825
hg1719825
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464396
Supporting Variants
SamplesHGDP00976
Known GenesISPD
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)nssv540317
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