A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467972



Internal ID15181351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202159984..202184455hg38UCSC Ensembl
Innerchr1:202129112..202153583hg19UCSC Ensembl
Innerchr1:200395735..200420206hg18UCSC Ensembl
Innerchr1:198860769..198885240hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3824472
hg1924472
hg1824472
hg1724472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543108
SamplesHGDP00136
Known GenesPTPN7, PTPRVP
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)nsv467972
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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