A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683576



Internal ID15073542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:817186..1275912hg38UCSC Ensembl
Innerchr1:752566..1211292hg19UCSC Ensembl
Innerchr1:742429..1201155hg18UCSC Ensembl
Innerchr1:792429..1251215hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38458727
hg19458727
hg18458727
hg17458787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517709
Supporting Variants
Samples
Known GenesAGRN, B3GALT6, C1orf159, C1orf170, FAM132A, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, LOC254099, MIR200A, MIR200B, MIR429, NOC2L, PLEKHN1, RNF223, SAMD11, SDF4, TNFRSF18, TNFRSF4, TTLL10, UBE2J2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683576
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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