A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607508



Internal ID16048231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74974883..75046119hg38UCSC Ensembl
Innerchr7:74786188..74857422hg19UCSC Ensembl
Innerchr7:74624124..74695358hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3871237
hg1971235
hg1871235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11452n54
Supporting Variantsnssv1087856
Samples
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607508
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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