A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540987



Internal ID15163517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142072828..142629318hg38UCSC Ensembl
Innerchr7:141419097..142017824hg18UCSC Ensembl
Innerchr7:141225812..141824539hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38556491
hg18598728
hg17598728
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465131
Supporting Variants
SamplesHGDP01205
Known GenesLOC730441, LOC93432, MGAM, MOXD2P, PRSS58
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)nssv540987
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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