A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695240



Internal ID15085206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:58451591..58576112hg38UCSC Ensembl
Innerchr19:58962958..59087479hg19UCSC Ensembl
Innerchr19:63654770..63779291hg18UCSC Ensembl
Innerchr19:63654770..63779291hg17UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38124522
hg19124522
hg18124522
hg17124522
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515731
Supporting Variants
Samples
Known GenesCENPBD1P1, CHMP2A, LOC100131691, MIR6807, MZF1, SLC27A5, TRIM28, UBE2M, ZBTB45, ZNF324, ZNF324B, ZNF446
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695240
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer