A curated catalogue of human genomic structural variation
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Variant Details
Variant: nsv1060662
Internal ID
18803193
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr17:46147167..46199182
hg38
UCSC
Ensembl
Inner
chr17:44224533..44276548
hg19
UCSC
Ensembl
Inner
chr17:41580310..41632325
hg18
UCSC
Ensembl
Cytoband
17q21.31
Allele length
Assembly
Allele length
hg38
52016
hg19
52016
hg18
52016
Variant Type
CNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
dgv3221n100
Supporting Variants
nssv3556839
,
nssv3556834
,
nssv3556836
,
nssv3556837
,
nssv3724177
,
nssv3724178
,
nssv3556835
,
nssv3556838
Samples
Known Genes
KANSL1
,
KANSL1-AS1
Method
SNP array
Analysis
Affymetrix SNP array copy number analysis
Platform
Affymetrix SNP Array 6.0
Comments
Reference
Coe_et_al_2014
Pubmed ID
25217958
Accession Number(s)
nsv1060662
Frequency
Sample Size
29084
Observed Gain
4
Observed Loss
4
Observed Complex
0
Frequency
n/a
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