A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004978



Internal ID19094195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16718951..16788205hg38UCSC Ensembl
Innerchr1:17045446..17114700hg19UCSC Ensembl
Innerchr1:16918033..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3869255
hg1969255
hg1869255
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3463375, nssv3470604, nssv3700033, nssv3482626, nssv3469518, nssv3474240, nssv3700034, nssv3474852, nssv3480064, nssv3700035
Samples
Known GenesESPNP, LOC729574, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004978
Frequency
Sample Size11257
Observed Gain3
Observed Loss7
Observed Complex0
Frequencyn/a


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