A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608423



Internal ID16395832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131005713..131028942hg38UCSC Ensembl
Innerchr7:130690472..130713701hg19UCSC Ensembl
Innerchr7:130341012..130364241hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3823230
hg1923230
hg1823230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094522
Samples
Known GenesLINC-PINT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608423
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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