A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465148



Internal ID15178527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142314978..142785320hg38UCSC Ensembl
Innerchr7:141661297..142193132hg18UCSC Ensembl
Innerchr7:141468012..141999847hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38470343
hg18531836
hg17531836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541004
SamplesHGDP00703
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)nsv465148
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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