A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541737



Internal ID15503096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:176698674..176757966hg38UCSC Ensembl
Innerchr1:176667810..176727102hg19UCSC Ensembl
Innerchr1:174934433..174993725hg18UCSC Ensembl
Innerchr1:173399467..173458759hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3859293
hg1959293
hg1859293
hg1759293
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466105
Supporting Variants
Samples1780862081_A
Known GenesPAPPA2
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)nssv541737
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