A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465248



Internal ID15525313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:156438411..156446434hg38UCSC Ensembl
Innerchr7:156231105..156239128hg19UCSC Ensembl
Innerchr7:155923866..155931889hg18UCSC Ensembl
Innerchr7:155730581..155738604hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg388024
hg198024
hg188024
hg178024
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541084
Samples1780846322_A
Known GenesLOC285889
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)nsv465248
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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