A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677337



Internal ID15413989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11867005..11868723hg38UCSC Ensembl
Innerchr12:12019939..12021657hg19UCSC Ensembl
Innerchr12:11911206..11912924hg18UCSC Ensembl
Innerchr12:11911206..11912924hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381719
hg191719
hg181719
hg171719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516796
Supporting Variants
Samples
Known GenesETV6, RNU6-19P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv677337
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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