A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541025



Internal ID15162617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142642726..142785320hg38UCSC Ensembl
Innerchr7:142350234..142493129hg19UCSC Ensembl
Innerchr7:142031222..142193132hg18UCSC Ensembl
Innerchr7:141837937..141999847hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38142595
hg19142896
hg18161911
hg17161911
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465169
Supporting Variants
SamplesHGDP00972
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)nssv541025
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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