A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703134



Internal ID15439786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:7487152..7489428hg38UCSC Ensembl
Innerchr1:7547212..7549488hg19UCSC Ensembl
Innerchr1:7469799..7472075hg18UCSC Ensembl
Innerchr1:7481478..7483754hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382277
hg192277
hg182277
hg172277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526782
Supporting Variants
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703134
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer