A curated catalogue of human genomic structural variation
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Variant Details
Variant: nsv1006161
Internal ID
18748692
Landmark
Location Information
Type
Coordinates
Assembly
Other Links
Inner
chr2:232346988..232444356
hg38
UCSC
Ensembl
Inner
chr2:233211698..233309066
hg19
UCSC
Ensembl
Inner
chr2:232919942..233017310
hg18
UCSC
Ensembl
Cytoband
2q37.1
Allele length
Assembly
Allele length
hg38
97369
hg19
97369
hg18
97369
Variant Type
CNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged Status
M
Merged Variants
dgv4183n100
Supporting Variants
nssv3586884
,
nssv3586880
,
nssv3586885
,
nssv3586883
,
nssv3586882
,
nssv3586886
,
nssv3586881
,
nssv3586879
Samples
Known Genes
ALPP
,
ALPPL2
,
ECEL1P2
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)
nsv1006161
Frequency
Sample Size
29084
Observed Gain
4
Observed Loss
4
Observed Complex
0
Frequency
n/a
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