A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014127



Internal ID18756660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16583102..16642554hg38UCSC Ensembl
Innerchr1:16909597..16969049hg19UCSC Ensembl
Innerchr1:16782184..16841636hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3859453
hg1959453
hg1859453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57n100
Supporting Variantsnssv3698869
Samples
Known GenesCROCCP2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014127
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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