A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700902



Internal ID15090868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:817186..1086035hg38UCSC Ensembl
Innerchr1:752566..1021415hg19UCSC Ensembl
Innerchr1:742429..1011278hg18UCSC Ensembl
Innerchr1:792429..1061338hg17UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38268850
hg19268850
hg18268850
hg17268910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517709
Supporting Variants
Samples
Known GenesAGRN, C1orf159, C1orf170, FAM41C, FAM87B, HES4, ISG15, KLHL17, LINC00115, LINC01128, LOC100130417, NOC2L, PLEKHN1, RNF223, SAMD11
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700902
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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