A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464629



Internal ID15178008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:89218730..89261877hg38UCSC Ensembl
Innerchr7:88848044..88891191hg19UCSC Ensembl
Innerchr7:88685980..88729127hg18UCSC Ensembl
Innerchr7:88492695..88535842hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3843148
hg1943148
hg1843148
hg1743148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540518
SamplesNINDS_2
Known GenesZNF804B
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)nsv464629
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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