A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465174



Internal ID15178553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142662001..142796623hg38UCSC Ensembl
Innerchr7:142369835..142494307hg19UCSC Ensembl
Innerchr7:142049398..142204435hg18UCSC Ensembl
Innerchr7:141856113..142011150hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38134623
hg19124473
hg18155038
hg17155038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv841n27
Supporting Variantsnssv541030
SamplesHGDP00542
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
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)nsv465174
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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